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Kleine-Levin syndrome

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 4 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

HLA-DQB1*06:02 allele associated with Kleine-Levin hibernation syndrome 148840 and narcolepsy, but also present in unaffected subjects. This gene is to remain red as it is associated with susceptibility to KLS
Created: 10 Jan 2017, 1:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Kleine-Levin hibernation syndrome 148840

Publications

Created: 5 Jan 2017, 3:55 p.m.

Panel version: 0.48

Details

Mode of Inheritance
Unknown
Sources
  • Other
Phenotypes
  • Kleine-Levin hibernation syndrome 148840
  • narcolepsy
OMIM
604305
Clinvar variants
Variants in HLA-DQB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually

5 Jan 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HLA-DQB1 were set to 12473762; 27305985; 27253765; 26126836; 26283305; 27081540

5 Jan 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HLA-DQB1 were set to Kleine-Levin hibernation syndrome 148840; narcolepsy

5 Jan 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HLA-DQB1 were set to 12473762; 27305985; 27253765; 26126836; 26283305

5 Jan 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HLA-DQB1 were set to 12473762; 27305985; 27253765; 26126836

5 Jan 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HLA-DQB1 were set to 12473762; 27305985; 27253765

5 Jan 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HLA-DQB1 was created by sleigh

5 Jan 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HLA-DQB1 was added to Kleine-Levin syndromepanel. Sources: Other