Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type Iq, 612379
- Kahrizi syndrome, 612713
- OMIM
- 611715
- Clinvar variants
- Variants in SRD5A3
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Structural eye disease
- Likely inborn error of metabolism
- Retinal disorders
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Hereditary ataxia with onset in adulthood
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SRD5A3 was added gene: SRD5A3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal