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Kleine-Levin syndrome

Gene: EIF3G

Red List (low evidence)
EIF3G (eukaryotic translation initiation factor 3 subunit G)
EnsemblGeneIds (GRCh38): ENSG00000130811
EnsemblGeneIds (GRCh37): ENSG00000130811
OMIM: 603913, Gene2Phenotype
EIF3G is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Narcolepsy associated with rs3826784 (c.596-260A>G) in EIF3G. The disease-associated allele increases EIF3G mRNA expression. EIF3G is located in the narcolepsy risk locus and EIF3G expression correlates with PPAN and P2RY11 expression (from PMID 25669430)
Created: 5 Jan 2017, 9:33 a.m.

Mode of inheritance
Unknown

Phenotypes
Narcolepsy

Publications

Created: 5 Jan 2017, 9:33 a.m.

Panel version: 0.15

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • Narcolepsy
OMIM
603913
Clinvar variants
Variants in EIF3G
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

Created

Sarah Leigh (Genomics England Curator)

EIF3G was created by sleigh

5 Jan 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EIF3G was added to Kleine-Levin syndromepanel. Sources: Literature