Kleine-Levin syndrome
Gene: MOGComment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported in large Spanish familyCreated: 5 Jan 2017, 10:47 a.m.
Comment on list classification: Based on comments from Expert reviewer Rosa Peraita-Adrados and that it is used diagnosticallyCreated: 5 Jan 2017, 10:46 a.m.
Hor H et al. A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. Am J Hum Genet. 2011 Sep 9;89(3):474-9.
We identify a causative mutation in familial narcolepsy, we performed linkage analysis in the largest ever reported family, which has 12 affected members, and sequenced coding regions of the genome (exome sequencing) of three affected members with narcolepsy and cataplexy. We successfully mapped a candidate locus on chromosomal region 6p22.1 (LOD score ¼ 3.85) by linkage analysis. Exome sequencing identified a missense mutation in the second exon of MOG within the linkage region. A c.398C>G mutation was present in all affected family members but absent in unaffected members and 775 unrelated control subjects.Created: 19 Dec 2016, 2:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
excessive daytime sleepiness with cataplexy; hypnagogic hallucinations, hypocretin deficiency; type 2 diabetes mellitus; morbid obesity; addition
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for MOG was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MOGAll sources for gene: MOG were removed
Publications for MOG were set to 21907016
MOG was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen