Cerebellar hypoplasia
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
1 review
Alice Gardham (Genomics England)
listed on G2P. Cerebellar hypoplasia commonly associatedCreated: 14 Nov 2016, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal 606854
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Polymicrogyria, bilateral frontoparietal 606854
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Cerebral vascular malformations
- DDG2P
- Malformations of cortical development
- Inherited white matter disorders
- Hereditary ataxia, adult onset
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 4
Added New Source
Alice Gardham (Genomics England)ADGRG1 was added to Cerebellar hypoplasiapanel. Sources: Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)ADGRG1 was created by agardham