Differences of Sex Development
Gene: SRD5A2

SRD5A2 (steroid 5 alpha-reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000277893
EnsemblGeneIds (GRCh37): ENSG00000049319
OMIM: 607306, Gene2Phenotype
SRD5A2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty.

Multiple families reported.
Created: 6 Apr 2022, 8:39 a.m. | Last Modified: 6 Apr 2022, 8:39 a.m.

Panel Version: 0.245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudovaginal perineoscrotal hypospadias, MIM# 264600

Publications

Created: 6 Apr 2022, 8:39 a.m.
Last Modified: 6 Apr 2022, 8:39 a.m.
Panel version: 0.245

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pseudovaginal perineoscrotal hypospadias, MIM# 264600

OMIM

607306

Clinvar variants

Variants in SRD5A2

Penetrance

None

Publications

Panels with this gene