Paroxysmal central nervous system disorders

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Possible susceptibility factor only
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
Unknown

Phenotypes
Kleine-Levin hibernation syndrome, 148840

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Kleine-Levin hibernation syndrome 148840
  • narcolepsy
OMIM
604305
Clinvar variants
Variants in HLA-DQB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hla-dqb1 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HLA-DQB1.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to HLA-DQB1.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HLA-DQB1.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Kleine-Levin hibernation syndrome 148840; narcolepsy for gene: HLA-DQB1

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HLA-DQB1 was added gene: HLA-DQB1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: HLA-DQB1 was set to Unknown Publications for gene: HLA-DQB1 were set to 12473762; 27305985; 27081540; 26283305; 26126836; 27253765 Phenotypes for gene: HLA-DQB1 were set to Kleine-Levin hibernation syndrome 148840; narcolepsy