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  3. SRD5A3
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Genetic Epilepsy

Gene: SRD5A3

Amber List (moderate 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)

I don't know

Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy.
Sources: Expert list
Created: 3 May 2024, 1:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 May 2024, 1:21 a.m.

Panel version: 0.2619

History Filter Activity

3 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srd5a3 has been classified as Amber List (Moderate Evidence).

3 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srd5a3 has been classified as Amber List (Moderate Evidence).

3 May 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRD5A3 was added gene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 26219881 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM# 612379 Review for gene: SRD5A3 was set to AMBER