Polymicrogyria and Schizencephaly
Gene: SRPX2

SRPX2 (sushi repeat containing protein, X-linked 2)
EnsemblGeneIds (GRCh38): ENSG00000102359
EnsemblGeneIds (GRCh37): ENSG00000102359
OMIM: 300642, Gene2Phenotype
SRPX2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variant in this gene originally identified in a 3-generation family. However, GRIN2A variant subsequently reported in same family plus original SRPX2 variant found to be at high pop frequency, now reclassified as benign; therefore no evidence currently for gene-disease association.
Created: 29 Feb 2020, 12:30 a.m. | Last Modified: 29 Feb 2020, 12:30 a.m.

Panel Version: 0.22

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

Publications

Created: 29 Feb 2020, 12:30 a.m.
Last Modified: 29 Feb 2020, 12:30 a.m.
Panel version: 0.22

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

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

Phenotypes

Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

OMIM

300642

Clinvar variants

Variants in SRPX2

Penetrance

None

Publications

Panels with this gene