NUDT2

nudix hydrolase 2
OMIM: 602852, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NUDT2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with or without peripheral neuropathy MIM#619844

    Green NUDT2 in Mendeliome


    Version 1.3807

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular hypotonia
    • Global developmental delay
    • Intellectual disability
    • Polyneuropathy

    Green NUDT2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.578

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with or without peripheral neuropathy MIM#619844

    Green NUDT2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.512

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with or without peripheral neuropathy MIM#619844

    Green NUDT2 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.47

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular hypotonia
    • Global developmental delay
    • Intellectual disability
    • Polyneuropathy

    Green NUDT2 in Fetal anomalies


    Version 1.483

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with or without peripheral neuropathy MIM#619844