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  2. Ataxia - paediatric
  3. SRD5A3
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Ataxia - paediatric

Gene: SRD5A3

Green List (high evidence)
SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cerebellar vermis hypoplasia is part of the phenotype.
Sources: Expert list
Created: 27 Dec 2019, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iq, MIM#612379

Created: 27 Dec 2019, 3:31 a.m.

Panel version: Imported from Ataxia_VCGS panel version 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Kahrizi syndrome, 612713
  • Congenital disorder of glycosylation, type Iq, 612379
  • Congenital disorder of glycosylation type Iq, 612379
OMIM
611715
Clinvar variants
Variants in SRD5A3
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srd5a3 has been classified as Green List (High Evidence).

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SRD5A3 was added gene: SRD5A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A3 were set to Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379; Congenital disorder of glycosylation type Iq, 612379