Kleine-Levin syndrome
Gene: SLC6A4Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least two variants reported one in OCD and the other in Anxiety-related personality traitsCreated: 5 Jan 2017, 1:39 p.m.
Comment on mode of pathogenicity: Gain of function variants associated with obsessive-compulsive disorderCreated: 5 Jan 2017, 1:38 p.m.
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 Red List (Low Evidence).
Mode of pathogenicity for SLC6A4 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for SLC6A4 were set to 16642437; 15642926; 17101915
Phenotypes for SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} 164230
Mode of inheritance for SLC6A4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC6A4 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services