Cerebral vascular malformations
Gene: GNAQ
GNAQ (G protein subunit alpha q)
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 8 panels
1 review
Alice Gardham (Genomics England)
Mutations only identified in affected skin and brain.Created: 12 Dec 2016, 3:49 p.m.
Mode of inheritance
Other
Phenotypes
Sturge-Weber syndrome, somatic, mosaic 185300
Publications
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- Cerebral diseases of vascular origin with epilepsy
- Capillary malformations, congenital, 1, somatic, mosaic, 163000
- Tags
- OMIM
- 600998
- Clinvar variants
- Variants in GNAQ
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GNAQ.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GNAQ.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
19 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GNAQ was added to Cerebrovascular disorderspanel. Source: Radboud University Medical Center, Nijmegen
9 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GNAQ was added to Cerebrovascular disorderspanel. Sources: Other
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GNAQ was created by ellenmcdonagh