Genomics England

DNMT1

DNA methyltransferase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	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
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dementia, Deafness, and Sensory Neuropathy, Neuropathy, hereditary sensory, type IE, 614116
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	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
Green in Paroxysmal central nervous system disorders 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