MCM3AP

minichromosome maintenance complex component 3 associated protein
OMIM: 603294, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MCM3AP in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124

Red MCM3AP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124)

    Green MCM3AP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124

    Green MCM3AP in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124