Differences of Sex Development
Gene: CYP11A1

CYP11A1 (cytochrome P450 family 11 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000140459
EnsemblGeneIds (GRCh37): ENSG00000140459
OMIM: 118485, Gene2Phenotype
CYP11A1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure.

Well established gene-disease association.
Created: 28 Nov 2021, 6:12 a.m. | Last Modified: 28 Nov 2021, 6:12 a.m.

Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743

Publications

Created: 28 Nov 2021, 6:12 a.m.
Last Modified: 28 Nov 2021, 6:12 a.m.
Panel version: 0.223

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743

OMIM

118485

Clinvar variants

Variants in CYP11A1

Penetrance

None

Publications

Panels with this gene