Ataxia and cerebellar anomalies - childhood onset
Gene: ADGRG1
ADGRG1 (adhesion G protein-coupled receptor G1)
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Polymicrogyria, bilateral frontoparietal 606854
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebral vascular malformations
- DDG2P
- Inherited white matter disorders
- Hereditary ataxia, adult onset
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Malformations of cortical development
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
9 Jan 2019, Gel status: 4
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: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ADGRG1 was added gene: ADGRG1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG1 were set to 15044805 Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854