Early-onset Dementia
Gene: DNMT1EnsemblGeneIds (GRCh38): ENSG00000130816
EnsemblGeneIds (GRCh37): ENSG00000130816
OMIM: 126375, Gene2Phenotype
DNMT1 is in 6 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Neurodegenerative disorder characterised by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early onset dementia.
PMID: 21532572
Identified DNMT1 mutations that causes hereditary sensory neuropathy with dementia as a prominent feature in two unrelated families.Created: 11 Aug 2023, 8 a.m. | Last Modified: 11 Aug 2023, 8 a.m.
Panel Version: 0.160
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type IE (MIM#614116)
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 126375
- Clinvar variants
- Variants in DNMT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNMT1 was added gene: DNMT1 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: DNMT1 was set to Unknown