Inherited white matter disorders
Gene: DCXEnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 8 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
-
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders; Lissencephaly, X-Linked, 1; Classic Lissencephaly/Subcortical Band Heterotopia; Lissencephaly, X-linked, 300067; Subcortical laminal heteropia, X-linked, 300067 to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DCX was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DCX was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
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)
Added New Source
Ellen McDonagh (Genomics England Curator)DCX was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)DCX was created by ellenmcdonagh