Paroxysmal central nervous system disorders
Gene: HLA-DQB1EnsemblGeneIds (GRCh38): ENSG00000179344
EnsemblGeneIds (GRCh37): ENSG00000179344
OMIM: 604305, Gene2Phenotype
HLA-DQB1 is in 4 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
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)
Possible susceptibility factor onlyCreated: 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
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- 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
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: hla-dqb1 has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to HLA-DQB1.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to HLA-DQB1.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to HLA-DQB1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Kleine-Levin hibernation syndrome 148840; narcolepsy for gene: HLA-DQB1
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