CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN).
|
27277422 |
2016 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
|
27602171 |
2016 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
PosttranslationalModification
|
disease |
BEFREE |
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
|
27602171 |
2016 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
|
25678562 |
2015 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E.
|
25033457 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E.
|
25033457 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy.
|
24727570 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases.
|
24709307 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy.
|
24727570 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases.
|
24709307 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21.
|
23521649 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations.
|
23904686 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
|
23365052 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations.
|
23904686 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21.
|
23521649 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations.
|
23904686 |
2013 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.
|
22328086 |
2012 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
BEFREE |
We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.
|
22328086 |
2012 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.
|
22328086 |
2012 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.
|
22328086 |
2012 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
|
21532572 |
2011 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sex-specific exons control DNA methyltransferase in mammalian germ cells.
|
9449671 |
1998 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hereditary Sensory and Autonomic Neuropathy Type Ie
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.
|
30342480 |
2018 |