NUDT2

nudix hydrolase 2
OMIM: 602852, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NUDT2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NUDT2-related Developmental Disorder
    Green NUDT2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Muscular hypotonia
    • Global developmental delay
    • Intellectual disability
    • Polyneuropathy
    • no OMIM number
    Amber NUDT2 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sensorimotor polyneuropathy
    • Muscular hypotonia
    • Intellectual disability
    • no OMIM number
    Tags
    • watchlist
    • founder-effect