Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: DNMT1
DNMT1 (DNA methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 13 panels
3 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, 4:30 p.m. | Last Modified: 1 Sep 2020, 4:30 p.m.
Panel Version: 1.48
Publications
simon mead (UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Caroline Wright (Genomics England Curator)
Comment on list classification: >3 patients with early onset dementia in OMIM and ClinVarCreated: 10 May 2016, 12:57 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dementia, Deafness, and Sensory Neuropathy
- 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
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set publications
Caroline Wright (Genomics England Curator)Publications for DNMT1 were set to 23365052
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Jul 2015, Gel status: 1
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
27 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DNMT1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Illumina TruGenome Clinical Sequencing Services