Cataracts

Gene: SRD5A3

Green List (high evidence)

SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 14 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
Kahrizi syndrome.

Publications

  • Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117
  • Najmabadi et al (2011) Nature 478:57

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to green due to expert review and current diagnostic at Manchester.
Created: 31 May 2016, 11:28 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for congenital disorders of glycosylation...in PMID:20637498 some patients were reported as having cataracts. This gene is associated with Kahrizi syndrome in OMIM (includes cataracts as a phenotype), however only one family report is provided.
Created: 29 Apr 2016, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SRD5A3 were set to Kahrizi syndrome.

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SRD5A3 were set to Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117 ; Najmabadi et al (2011) Nature 478:57

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SRD5A3 was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SRD5A3 was added to Cataractspanel. Sources: UKGTN