Kleine-Levin syndromeGene: DNMT1
Additional functional evidence: PMID: 31984424 - Maresca et al - studied the effects of different DNMT1 mutations in fibroblasts from four Autosomal Dominant Cerebellar Ataxia-Deafness and Narcolepsy (ADCA-DN) and two Hereditary Sensory Neuropathy with Dementia and Hearing loss (HSN-IE) patients who were unrelated. They found mitochondrial hyper-function that resulted in increased oxidative stress but no change in mitochondrial DNA CpG methylation. They demonstrated that DNMT1 is not localized within mitochondria, but it is associated to the mitochondrial outer membrane. AMPK and mTORC1, the two major sensors of cellular energy, were implicated in the pathogenic mechanism of the most severe DNMT1 mutations.
Created: 1 Sep 2020, 4:29 p.m. | Last Modified: 1 Sep 2020, 4:29 p.m.
Panel Version: 1.4
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 9 variants reported
Created: 5 Jan 2017, 9:39 a.m.
Publications for gene: DNMT1 were set to 22328086; 24709307; 23904686
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 Green List (High Evidence).
Publications for DNMT1 were set to 22328086; 24709307; 23904686
DNMT1 was added to Kleine-Levin syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Publications for DNMT1 were set to 22328086
Model of inheritance for gene DNMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DNMT1 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: UKGTN
DNMT1 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen