Genomics England

Genes and Entities

Congenital adrenal hypoplasia (Version: )

Relevant disorders: R150

Signed off date: 30 Nov 2022

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

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14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIRE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Other	N/A
Green	CYP11A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q3_22_MOI
Green	MC2R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NNT	BIALLELIC, autosomal or pseudoautosomal	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	POLE	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	STAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A