Kleine-Levin syndrome

Gene: DNMT1

Green List (high evidence)

DNMT1 (DNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory, type IE, 614116
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
  • CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
  • ADCADN
OMIM
126375
Clinvar variants
Variants in DNMT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DNMT1 were set to 22328086; 24709307; 23904686

5 Jan 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DNMT1 was added to Kleine-Levin syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

24 Nov 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DNMT1 were set to 22328086

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: UKGTN

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT1 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen