This Panel is marked as Internal
Genomic imprinting
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- OMIM
- 126375
- Clinvar variants
- Variants in DNMT1
- Penetrance
- None
- 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
22 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: DNMT1 was added gene: DNMT1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: DNMT1 were set to 24094292; 21749726; 30794780; 24402520; http://igc.otago.ac.nz/home.html