Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SRD5A3

Green List (high evidence)

SRD5A3 (steroid 5 alpha-reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 15 panels

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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