DNMT1

DNA methyltransferase 1
OMIM: 126375, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DNMT1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DNMT1 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
    • Neuropathy, hereditary sensory, type IE, 614116

    Green DNMT1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DNMT1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
    • Neuropathy, hereditary sensory, type IE, 614116

    Green DNMT1 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Cerebellar ataxia, deafness and narcolepsy, 604121
    • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
    • Hereditary sensory neuropathy type IE, 614116

    Green DNMT1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Neuropathy, hereditary sensory, type IE, 614116
    • Dementia, Deafness, and Sensory Neuropathy
    • HSAN/SFN