Cerebral vascular malformations
Gene: ARX
ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 20 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
not associated with cerebral vascular malformationsCreated: 25 Nov 2024, 10:45 p.m. | Last Modified: 25 Nov 2024, 10:45 p.m.
Panel Version: 0.39
Details
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Repeat Disorders
- Hydrocephalus_Ventriculomegaly
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Dystonia - complex
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Callosome
- Cerebral Palsy
- Autism
History Filter Activity
26 Nov 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arx has been classified as Red List (Low Evidence).
18 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARX was added gene: ARX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ARX was set to Phenotypes for gene: ARX were set to Cerebral Malformation Disorders