PanelApp (stage)
  1. Genes and Genomic Entities
  2. NUP54

NUP54

nucleoporin 54
OMIM: 607607, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber NUP54 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia 37, early-onset, with striatal lesions, MIM# 620427
  • Early onset dystonia
  • progressive neurological deterioration
  • ataxia
  • dysarthria
  • dysphagia
  • hypotonia

Amber NUP54 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.235

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dystonia 37, early-onset, with striatal lesions, MIM# 620427
    • Early onset dystonia
    • progressive neurological deterioration
    • ataxia
    • dysarthria
    • dysphagia
    • hypotonia