ClinGen Dosage Sensitivity Curation Page
See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
SRD5A2
- Curation Status: Complete
- id: ISCA-32933
- Date last evaluated: 2012-08-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SRD5A2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/6716
- OMIM: https://omim.org/entry/607306
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000002.11)
(NC_000002.12)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
Haploinsufficiency phenotype comments:
This gene is associated with autosomal recessive pseudovaginal perineoscrotal hypospadias (5-alpha reductase deficiency).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity