Cerebral vascular malformations

Gene: DCX

Red List (low evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

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

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.
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

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcx has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to lissencephaly spectrum disorders MONDO:0018838

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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