Malformations of cortical development
Gene: DCX

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported (at least 8 in Lissencephaly, X-linked 300067 (with and without Subcortical laminal heteropia) and 6 in Subcortical laminal heteropia, X-linked 300067 alone)
Created: 1 Nov 2016, 12:45 p.m.

Created: 1 Nov 2016, 12:45 p.m.

Panel version: 0.11

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Oct 2016, 7:06 p.m.

Panel version: 0.3

Ellen McDonagh (Genomics England Curator)

Phenotypes and mode of inheritance (X-linked) sourced from OMIM.
Created: 8 Jan 2016, 10:20 a.m.

Created: 8 Jan 2016, 10:20 a.m.

Panel version: 0.2

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
UKGTN
Emory Genetics Laboratory
Eligibility statement prior genetic testing
Other

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: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DCX were changed from Lissencephaly, X-linked 300067; Subcortical laminal heteropia, X-linked 300067; Classic Lissencephaly/Subcortical Band Heterotopia to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4