Hereditary neuropathy
Gene: DNMT1EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
7 reviews
Eleanor Williams (Genomics England Curator)
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, 4:33 p.m. | Last Modified: 1 Sep 2020, 4:33 p.m.
Panel Version: 1.375
Publications
Natalie Forrester (SWGLH - Bristol Genetics)
PMID: 21532572 - identified 2 different heterozygous mutations in 4 unrelated familiesCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116 ; Dementia, Deafness, and Sensory Neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Neuropathy, hereditary sensory, type IE, 614116
- Neuropathy, hereditary sensory, type IE, 614116
- Dementia, Deafness, and Sensory Neuropathy
- OMIM
- 126375
- Clinvar variants
- Variants in DNMT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Intellectual disability
- Hereditary ataxia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- 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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: DNMT1 were set to 21532572
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DNMT1 were changed from Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy to Neuropathy, hereditary sensory, type IE, 614116; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DNMT1 were changed from other; Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116; other; Dementia, Deafness, and Sensory Neuropathy ; Neuropathy, hereditary sensory, type IE, 614116 to Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Dementia, Deafness, and Sensory Neuropathy; other; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1 Publications for gene DNMT1 were changed from to 21532572
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to DNMT1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DNMT1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to DNMT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)DNMT1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
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
Added New Source
Ellen McDonagh (Genomics England Curator)DNMT1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
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
Added New Source
Ellen McDonagh (Genomics England Curator)DNMT1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)DNMT1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory