Kleine-Levin syndromeGene: AKR1C2
Comment when marking as ready: Associated with hyperphagia in OMIM, not in G2P / DD. No variants reported
Created: 5 Jan 2017, 9:45 a.m.
Comment on phenotypes: Also associated with developmental delay 46XY sex reversal 8, 614279
Created: 5 Jan 2017, 9:42 a.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).
Phenotypes for AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Mode of inheritance for AKR1C2 was changed to Unknown
AKR1C2 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen