White matter disorders and cerebral calcification - childhood onset
Gene: ARX
ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
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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
- Phenotypes
-
- 300215
- Cerebral Malformation Disorders
- Lissencephaly, X-linked 2
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Neurodegenerative disorders, adult onset
- Cerebral vascular malformations
- Inherited white matter disorders
- Fetal anomalies
- Hydrocephalus
- Intestinal failure or congenital diarrhoea
- Differences in sex development
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- DDG2P
- Malformations of cortical development
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARX was added gene: ARX was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode 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) Phenotypes for gene: ARX were set to 300215; Cerebral Malformation Disorders; Lissencephaly, X-linked 2