Inherited white matter disorders

Gene: DCX

Red List (low evidence)

DCX (doublecortin)
EnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 9 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: These disorders should be in the Malformations of cortical development panel.
Created: 6 Oct 2016, 9:37 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for Lissencephaly, X-linked type I and Subcortical laminal heteropia, X-linked. More than 3 cases in OMIM and found in 3/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if these disorders should be included on a white matter disorder panel.
Created: 25 Aug 2016, 3:01 p.m.

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 Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly, X-Linked, 1
  • Classic Lissencephaly/Subcortical Band Heterotopia
  • Lissencephaly, X-linked, 300067
  • Subcortical laminal heteropia, X-linked, 300067
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DCX was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DCX was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory

5 Apr 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DCX was added to Inherited white matter disorderspanel. Sources: UKGTN

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DCX was created by ellenmcdonagh