Cerebral vascular malformations

Gene: HLA-DQB1

Red List (low evidence)

HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1)
EnsemblGeneIds (GRCh38): ENSG00000179344
EnsemblGeneIds (GRCh37): ENSG00000179344
OMIM: 604305, Gene2Phenotype
HLA-DQB1 is in 5 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: DQB1*0502 and *0401 alleles.
Created: 30 Mar 2016, 3:34 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
OMIM
604305
Clinvar variants
Variants in HLA-DQB1
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-DQB1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HLA-DQB1.

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-DQB1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HLA-DQB1 was created by ellenmcdonagh