Bilateral congenital or childhood onset cataracts
Gene: SRD5A3EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Kahrizi syndrome.
- OMIM
- 611715
- Clinvar variants
- Variants in SRD5A3
- Penetrance
- Complete
- Publications
-
- Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117
- Najmabadi et al (2011) Nature 478:57
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Structural eye disease
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SRD5A3 were set to Kahrizi syndrome.
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SRD5A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()SRD5A3 was added to Cataractspanel. Sources: UKGTN