Polymicrogyria and Schizencephaly
Gene: SRD5A3EnsemblGeneIds (GRCh38): ENSG00000128039
EnsemblGeneIds (GRCh37): ENSG00000128039
OMIM: 611715, Gene2Phenotype
SRD5A3 is in 12 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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 Red
- Phenotypes
-
- Congenital disorder of glycosylation, type Iq (MIM#612379)
- OMIM
- 611715
- Clinvar variants
- Variants in SRD5A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Prepair 1000+
- Lissencephaly and Band Heterotopia
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: srd5a3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: srd5a3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SRD5A3 was added gene: SRD5A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 18271001; 20637498; 31638560; 27480077 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq (MIM#612379) Review for gene: SRD5A3 was set to RED gene: SRD5A3 was marked as current diagnostic