Inherited white matter disorders
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
Ellen McDonagh (Genomics England Curator)
Collected from the UKGTN website as "GPR56", which is a previous symbol for this gene.Created: 19 May 2016, 1:22 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- Complete
- 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
6 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
19 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ADGRG1 was created by ellenmcdonagh
19 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ADGRG1 was added to Inherited white matter disorderspanel. Sources: UKGTN