DNMT1

DNA methyltransferase 1
OMIM: 126375
PanelMode of inheritanceDetails
6 panels
R-numbers: R58
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
R-numbers: R54
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,, Cerebellar ataxia, deafness and narcolepsy, 604121, Hereditary sensory neuropathy type IE, 614116
R-numbers: R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dementia, Deafness, and Sensory Neuropathy, Neuropathy, hereditary sensory, type IE, 614116
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.50
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hearing loss, Dementia, Deafness, and Sensory Neuropathy, Neuropathy, hereditary sensory, type IE, 614116, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
R-numbers: R66
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ADCADN