Inherited white matter disorders

Gene: ARX

Red List (low evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 14 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

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).

26 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ARX were set to Cerebral Malformation Disorders;Lissencephaly, X-linked 2; 300215

26 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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2016, Gel status: 1

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)

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ARX was created by ellenmcdonagh

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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