Cerebral vascular malformations

Gene: HLA-DRB1

Red List (low evidence)

HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)
EnsemblGeneIds (GRCh38): ENSG00000196126
EnsemblGeneIds (GRCh37): ENSG00000196126
OMIM: 142857, Gene2Phenotype
HLA-DRB1 is in 6 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Certain HLA groups are at increased risk of developing Moya Moya but not a causative link
Created: 12 Dec 2016, 3:56 p.m.

Ellen McDonagh (Genomics England Curator)

Notes from the expert list: HLADRB1*0405 allele.
Created: 30 Mar 2016, 3:35 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
OMIM
142857
Clinvar variants
Variants in HLA-DRB1
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-DRB1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HLA-DRB1.

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-DRB1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HLA-DRB1 was created by ellenmcdonagh