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Cerebral vascular malformations

Gene: DCX

Red List (low evidence)
DCX (doublecortin)
EnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 8 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:53 a.m.
Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:53 a.m.
Created: 12 Dec 2016, 11:53 a.m.

Panel version: 0.18

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
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067
  • Subcortical laminal heterotopia, X-linked, OMIM:300067
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DCX.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DCX.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DCX was added to Cerebrovascular disorderspanel. Sources: UKGTN

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DCX was created by ellenmcdonagh