Cerebral vascular malformations

Gene: HLA-B

Red List (low evidence)

HLA-B (major histocompatibility complex, class I, B)
EnsemblGeneIds (GRCh38): ENSG00000234745
EnsemblGeneIds (GRCh37): ENSG00000234745
OMIM: 142830, Gene2Phenotype
HLA-B is in 5 panels

2 reviews

Alice Gardham (Genomics England)

Red List (low evidence)

Certain HLA groups are more likely to develop Moya Moya disease. Not causative
Created: 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
  • 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

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HLA-B.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HLA-B.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HLA-B was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HLA-B was created by ellenmcdonagh