Genomics England

Unexplained paediatric onset end-stage renal disease (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R257

Signed off date: 4 Mar 2020

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

180 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMN	BIALLELIC, autosomal or pseudoautosomal	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	ARHGDIA	BIALLELIC, autosomal or pseudoautosomal	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	ARMC9	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	BNC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	BSND	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD46	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104	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	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CFH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFHR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFHR3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFHR5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CFI	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CLCN5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	COL4A4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A5	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	COQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGKE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSTYK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC2H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DZIP1L	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EMP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT1	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	GANAB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	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	GLI3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRHPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOGA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPSE2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IFT122	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E	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	ISCA-37401-Loss 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37405-Loss 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37432-Loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITGA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITSN1	BIALLELIC, autosomal or pseudoautosomal	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	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KYNU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAGE3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LAMB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LRIG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAGI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1	BIALLELIC, autosomal or pseudoautosomal	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	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-TF	MITOCHONDRIAL	N/A	N/A
Green	MUC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYO1E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8	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	NPHS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP133	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP85	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP93	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	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	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	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PBX1	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	PKD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PODXL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	REN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RET	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCARB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC61A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIX5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC22A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A9	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SMARCAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D8B	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	TBX18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
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	TMEM107	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138	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	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP53RK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPC6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC21B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VHL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	XDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Unexplained paediatric onset end-stage renal disease (Version: 3.113.02.01.2)

Unexplained paediatric onset end-stage renal disease (Version: )