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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 25 families reported, well established gene-disease association. Allelic disorder Kahrizi syndrome has overlapping features, may not be distinct entity.
Created: 1 Sep 2020, 5:50 a.m. | Last Modified: 1 Sep 2020, 5:50 a.m.
Panel Version: 0.160

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iq, MIM# 612379; Kahrizi syndrome, MIM# 612713

Publications

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported in 2 individuals from the same family in PMID: 18271001, but given that it is only this one family I have rated it red.
Sources: Literature
Created: 26 Aug 2020, 3:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iq, MIM# 612379
  • Kahrizi syndrome, MIM# 612713
OMIM
611715
Clinvar variants
Variants in SRD5A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, 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).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRD5A3 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Iq, MIM# 612379; Kahrizi syndrome, MIM# 612713

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRD5A3 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRD5A3 was added gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION