Genomics England

Fetal anomalies (Version: )

Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412

Signed off date: 6 Dec 2023

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

See this panel in PanelApp

1279 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS2	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ABCA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ABHD5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACVR2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADSL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFF4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHDC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	AKT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH1A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALOX12B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALOXE3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AMACR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMMECR1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AMPD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANKH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANOS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ANTXR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AP4E1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARCN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARFGEF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGAP29	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARHGAP31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC4	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARMC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARX	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ASAH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATAD3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATIC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP5O	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCL11A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BFSP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BGN	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BHLHA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	BMP4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMPER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BNC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRPF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BSND	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C11orf70	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf70	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf59	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	CACNA1G	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CANT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC103	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC114	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC151	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC88C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDAN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK5RAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDKL5	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDON	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CELSR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP63	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CERS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAMP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRND	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHUK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CNOT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNTNAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL10A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL3A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A3BP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	COL6A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLQ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREB3L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRIPT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRLF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRTAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYGC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYGD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSF1R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTCF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL4B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CYP11B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP17A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP21A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP26B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP4F22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX3X	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDX59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DISP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked, watchlist
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLX5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH5	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	DNAH9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1L	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DONSON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSP	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSTYK	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DYM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DYNC2H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DZIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ECEL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDNRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDNRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EED	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFNB1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EFTUD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EHBP1L1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2AK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF4A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EML1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPHB4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ESCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOC3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EXOSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXTL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EZH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM111A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FAM126A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM20A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM46A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM58A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FANCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FANCC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLT4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLVCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXE3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXRED1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FUT8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FYCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	G6PC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GANAB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDF1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GLB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLIS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMNN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAO1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNPAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GREB1L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	GRHL3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GRIN2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUCY2C	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HBA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HBA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCFC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HDAC8	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HES7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIVEP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HMGA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPK	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOXA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOXD13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HPSE2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HSD17B3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSF4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HYLS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IDH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	IFITM5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IFT122	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IGF2	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	IGHMBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IHH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IL11RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL1RAPL1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IMPAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INSR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46302-Gain Xp21.2 region (includes NR0B1) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGB4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KANSL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KATNB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCTD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM5C	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KIAA0586	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF21A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLF1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	KLHL40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KNL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KRIT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KYNU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L1CAM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LFNG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LGI4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LIFR	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_expert_review, Q2_22_MOI, to_be_confirmed_NHSE
Green	LIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMNB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMOD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	LRP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRC56	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LRRC6	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LTBP3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAFB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	MAGEL2	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	watchlist
Green	MAP2K1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP2K2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPRE2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MATN3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MBTPS2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECOM	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED12	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	to_be_confirmed_NHSE, Q3_21_expert_review, Q3_21_MOI, Skewed X-inactivation
Green	MED13L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEF2C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEGF10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEIS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MID1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMP13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MMP21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MNX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MOCS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MRPS22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSL3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSMO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MSX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MTO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTOR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MUSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYBPC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	MYH11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYL9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO9A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOCD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYPN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYRF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	NAA10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NACC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NADSYN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NANS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB11	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NEK1	BIALLELIC, autosomal or pseudoautosomal	N/A	polygenic
Green	NEK8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFIX	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NHEJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NIPAL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX3-2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NODAL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR0B1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NR2F2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR5A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSDHL	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NXN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OFD1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OPHN1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ORC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSTM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	P3H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAK3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PALB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAPSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PBX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCGF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDCD10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE4D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDHA1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHF6	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHIP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHOX2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIBF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIH1D3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	PIK3C2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	PIK3R1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD1L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PLCB4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	POLR1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLR1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	POU1F1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1CB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R5D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PQBP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRIM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKACA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKACB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKAR1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	PRMT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRRX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRSS56	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTDSS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTF1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTH1R	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTHLH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTPN14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PYCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRICH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	QRSL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB11A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	RAB18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAC3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAI1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAPSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBPJ	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RERE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RET	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIPK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RMND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU4ATAC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ROBO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROGDI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPL11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL35A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS24	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS6KA3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RPS7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RRAS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RRM2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RYR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SAMD9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SATB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCUBE3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDR9C7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC24D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETBP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SETD5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SF3B4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SGCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3PXD2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHANK3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHOC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHOX	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SIK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC10A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A1	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	SLC12A6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC20A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A24	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC25A38	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC27A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC33A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCE1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC1A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMCHD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism, somatic
Green	SMOC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNORD118	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNRPB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SON	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOST	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX18	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SOX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPECC1L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPEG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPRED1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SRCAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SRD5A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRY	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	y-chromosome
Green	ST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAG2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STAMBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SULT2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUZ12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SYNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TAF1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TALDO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBC1D20	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	TBC1D23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	TBCK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1XR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	TBX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX20	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCIRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCOF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCTEX1D2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TENM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAP2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGIF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THOC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TINF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TLL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM260	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM38B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM94	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM98	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TOE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TPM3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRAIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAPPC12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSEN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBGCP6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWIST2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	TXNDC15	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNL4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2T	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP18	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	USP9X	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	VAMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VEGFC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VSX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WBP11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR34	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR62	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WLS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT7B	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	WRAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	XRCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YY1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB20	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZC4H2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZMPSTE24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMYM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYND10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Fetal anomalies (Version: 3.1223.02.01.92)

Fetal anomalies (Version: )