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Mendeliome

Gene: SRD5A2

Green List (high evidence)

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, 8:36 a.m. | Last Modified: 6 Apr 2022, 8:36 a.m.
Panel Version: 0.12619

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudovaginal perineoscrotal hypospadias, MIM# 264600

Publications

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

History Filter Activity

6 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srd5a2 has been classified as Green List (High Evidence).

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRD5A2 were set to

6 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRD5A2 was added gene: SRD5A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SRD5A2 was set to Unknown