Disorders of sex development
Gene: SRD5A2
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.
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.
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
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:40 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN,Illumina TruGenome Clinical Sequencing Services
SRD5A2All sources for gene: SRD5A2 were removed
Phenotypes for gene SRD5A2 were set to Gender Assignment Gene Panel (UKGTN); Pseudovaginal perineoscrotal hypospadias 264600; Steroid 5-alpha-reductase deficiency
SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN
SRD5A2All sources for gene: SRD5A2 were removed
Phenotypes for gene SRD5A2 were set to Gender Assignment Gene Panel (UKGTN); Pseudovaginal perineoscrotal hypospadias 264600; Steroid 5-alpha-reductase deficiency
SRD5A2 was added to Disorders of sex developmentpanel. Source: Other
SRD5A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,UKGTN,Other
SRD5A2 was created by ellenmcdonagh