Differences in sex development
Gene: SRD5A2EnsemblGeneIds (GRCh38): ENSG00000277893
EnsemblGeneIds (GRCh37): ENSG00000049319
OMIM: 607306, Gene2Phenotype
SRD5A2 is in 2 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 14 variants reportedCreated: 13 Sep 2016, 9:31 a.m.
Comment on list classification: Expert reviewer - GreenCreated: 13 Sep 2016, 9:31 a.m.
John Achermann (UCL Institute of Child Health)
Quite a common cause of severe undervirilization of 46,XY child, but can have milder variants. Most common in consanguineous populations, with some founder effects and hotspots for mutations. May "change" from female to male at puberty or may first present at adolescence as a girl who is androgenizing.Created: 4 Feb 2016, 12:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Other
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Pseudovaginal perineoscrotal hypospadias 264600
- OMIM
- 607306
- Clinvar variants
- Variants in SRD5A2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
Upload gene information
Sarah Leigh (Genomics England Curator)SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN,Illumina TruGenome Clinical Sequencing Services
clearsources
Sarah Leigh (Genomics England Curator)SRD5A2All sources for gene: SRD5A2 were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SRD5A2 were set to Gender Assignment Gene Panel (UKGTN); Pseudovaginal perineoscrotal hypospadias 264600; Steroid 5-alpha-reductase deficiency
Upload gene information
Sarah Leigh (Genomics England Curator)SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)SRD5A2All sources for gene: SRD5A2 were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SRD5A2 were set to Gender Assignment Gene Panel (UKGTN); Pseudovaginal perineoscrotal hypospadias 264600; Steroid 5-alpha-reductase deficiency
Added New Source
Sarah Leigh (Genomics England Curator)SRD5A2 was added to Disorders of sex developmentpanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,UKGTN,Other
Created
Ellen McDonagh (Genomics England Curator)SRD5A2 was created by ellenmcdonagh