Inherited white matter disorders
Gene: ARXComment 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.
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ARX were set to Cerebral Malformation Disorders;Lissencephaly, X-linked 2; 300215
This gene has been classified as Amber List (Moderate Evidence).
ARX was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
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)
ARX was created by ellenmcdonagh
ARX was added to Inherited white matter disorderspanel. Sources: UKGTN