Genetic Epilepsy
Gene: DCX

DCX (doublecortin)
EnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported. Seizures are a feature of the condition.
Created: 28 Aug 2020, 10:37 a.m. | Last Modified: 9 Mar 2024, 1:24 a.m.

Panel Version: 0.2349

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067

Publications

Created: 28 Aug 2020, 10:37 a.m.
Last Modified: 9 Mar 2024, 1:24 a.m.
Panel version: Imported from Mendeliome panel version 0.3970

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Lissencephaly, X-linked, MIM# 300067
Subcortical laminal heterotopia, X-linked 300067

OMIM

300121

Clinvar variants

Variants in DCX

Penetrance

None

Publications

Panels with this gene