Genomics England
GMS Panels
Panels
Genes and Entities

NUP54

nucleoporin 54
OMIM: 607607
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NUP54-related early-onset dystonia with striatal lesions
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset dystonia