NUP54

nucleoporin 54
OMIM: 607607, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NUP54 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NUP54-related early-onset dystonia with striatal lesions
    Green NUP54 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Early-onset dystonia