Genomics England
GMS Panels
Panels
Genes and Entities

UPF1

UPF1, RNA helicase and ATPase
OMIM: 601430
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
UPF1-related developmental disorder (monoallelic)