Inherited white matter disorders
Gene: ARXEnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Lissencephaly comes into the Malformations of cortical development panel, not Inherited white matter disorders panel.Created: 6 Oct 2016, 9:22 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for LISSENCEPHALY X-LINKED TYPE 2, more than 3 cases in OMIM for Lissencephaly, X-linked 2 with different variants, and found in 2/4 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 Lissencephaly, X-linked 2 is a white matter disorder (it does include Gliosis of the white matter according to the OMIM clinical synopsis).Created: 26 Aug 2016, 9:03 a.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
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- Lissencephaly, X-linked 2
- 300215
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intestinal failure or congenital diarrhoea
- Inherited white matter disorders
- Differences in sex development
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Early onset dystonia
- Early onset or syndromic epilepsy
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ARX were set to Cerebral Malformation Disorders;Lissencephaly, X-linked 2; 300215
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)ARX was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created
Ellen McDonagh (Genomics England Curator)ARX was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ARX was added to Inherited white matter disorderspanel. Sources: UKGTN