Cerebral vascular malformations
Gene: DCX
Gene is associated with various brain malformations however no evidence of any individuals having any evidence of CVM.Created: 25 Nov 2024, 6:07 a.m. | Last Modified: 25 Nov 2024, 6:07 a.m.
Panel Version: 0.39
Phenotypes
lissencephaly spectrum disorders MONDO:0018838
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.Created: 28 Aug 2020, 10:37 a.m. | Last Modified: 28 Aug 2020, 10:37 a.m.
Panel Version: 0.3970
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
Gene: dcx has been classified as Red List (Low Evidence).
Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to lissencephaly spectrum disorders MONDO:0018838
gene: DCX was added gene: DCX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DCX was set to Phenotypes for gene: DCX were set to Cerebral Malformation Disorders