Genomics England
GMS Panels
Panels
Genes and Entities

NUP62

nucleoporin 62
OMIM: 605815
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE STRIATONIGRAL DEGENERATION 271930