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Fetal anomalies

Gene: SRD5A2

Green List (high evidence)

SRD5A2 (steroid 5 alpha-reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000277893
EnsemblGeneIds (GRCh37): ENSG00000049319
OMIM: 607306, Gene2Phenotype
SRD5A2 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Pseudovaginal perineoscrotal hypospadias 264600
Clinvar variants
Variants in SRD5A2
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SRD5A2 was added gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600