Genomics England

Disorders of sex development (Version: )

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

Relevant disorders: R146

Signed off date: 30 Nov 2022

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off

40 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AMH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMHR2	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	ARX	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	ATRX	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CYB5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP11A1	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_MOI
Green	CYP11B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP17A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP19A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP21A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX37	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSD17B3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B2	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-46302-Gain Xp21.2 region (includes NR0B1) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LHCGR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAMLD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAP3K1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR0B1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NR5A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R12A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RSPO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRY	Other - please specifiy in evaluation comments	N/A	y-chromosome
Green	STAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSPYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Disorders of sex development (Version: 4.54.03.02.2)

Disorders of sex development (Version: )