Cerebral vascular malformations
Gene: ADGRG1EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 12 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:52 a.m.
Ellen McDonagh (Genomics England Curator)
This was on the UKGTN site as 'GPR56' which corresponds to the new symbol ADGRG1.Created: 9 Dec 2016, 1:48 p.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 604110
- Clinvar variants
- Variants in ADGRG1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Fetal anomalies
- Cerebellar hypoplasia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ADGRG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ADGRG1.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Changed Gene Name
Ellen McDonagh (Genomics England Curator)GPR56* was changed to ADGRG1
Added New Source
Ellen McDonagh (Genomics England Curator)GPR56* was added to Cerebrovascular disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)GPR56* was created by ellenmcdonagh