NUDT2

nudix hydrolase 2
OMIM: 602852, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green NUDT2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
Green NUDT2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    Green NUDT2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
    Tags
    • founder-effect