Retinal disorders
Gene: SRD5A3
SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 14 panels
2 reviews
Robert Henderson (Great Ormond Street Hospital)
Ivone Leong (Genomics England Curator)
SRD5A3 is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with congenital disorder of glycosylation (SRD5A3-CDG) with retinal dystrophy who have different variants in this gene.Created: 3 Apr 2019, 3:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Congenital disorder of glycosylation, type Iq, 612379
- Kahrizi syndrome, 612713
- OMIM
- 611715
- Clinvar variants
- Variants in SRD5A3
- Penetrance
- None
- Publications
- 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
3 Apr 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SRD5A3 was added gene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 28253385; 30019980; 24433453 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713