Familial dysautonomia
Gene: DNMT1EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
3 reviews
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
Comment on list classification: Not associated with dysautonomiaCreated: 17 Nov 2016, 4:30 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Three variants (p.Y495C, p.Y495H & p.D490_P491delinsEY) reported in six unrelated families from Scotland, America, Japan and Europe, supporting functional evidence provided for p.Y495C & p.D490_P491delinsEY, pathogenicity of p.Y495H likely as it is affected the same residue as p.Y495CCreated: 30 Aug 2016, 12:49 p.m.
Comment on phenotypes: Variants also reported in Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 604121Created: 30 Aug 2016, 12:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory, type IE 614116
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory, type IE 614116
- OMIM
- 126375
- Clinvar variants
- Variants in DNMT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Hereditary ataxia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Kleine-Levin syndrome
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DNMT1 were set to Neuropathy, hereditary sensory, type IE 614116
Added New Source
Sarah Leigh (Genomics England Curator)DNMT1 was added to Familial dysautonomiapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)DNMT1 was created by sleigh