Lissencephaly and Band Heterotopia
Gene: SRD5A3

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

1 review

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 (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.

Not sure this gene should be on this panel. Have added to polymicrogyria panel instead.
Created: 26 Aug 2020, 3:03 a.m. | Last Modified: 26 Aug 2020, 3:08 a.m.

Panel Version: 0.60

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

Created: 26 Aug 2020, 3:03 a.m.
Last Modified: 26 Aug 2020, 3:08 a.m.
Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

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

OMIM

611715

Clinvar variants

Variants in SRD5A3

Penetrance

None

Publications

Panels with this gene