Cerebral vascular malformations
Gene: HLA-BEnsemblGeneIds (GRCh38): ENSG00000234745
EnsemblGeneIds (GRCh37): ENSG00000234745
OMIM: 142830, Gene2Phenotype
HLA-B is in 3 panels
2 reviews
Alice Gardham (Genomics England)
Certain HLA groups are more likely to develop Moya Moya disease. Not causativeCreated: 12 Dec 2016, 3:55 p.m.
Ellen McDonagh (Genomics England Curator)
Notes from expert list: HLA-B35 and HLA-B51 alleles.Created: 30 Mar 2016, 3:34 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Expert list
- Phenotypes
-
- Moyamoya disease
- OMIM
- 142830
- Clinvar variants
- Variants in HLA-B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to HLA-B.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HLA-B.
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).
Added New Source
Ellen McDonagh (Genomics England Curator)HLA-B was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)HLA-B was created by ellenmcdonagh