White matter disorders and cerebral calcification - narrow panel
Gene: ARX

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels

0 reviews

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

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