Genomics England
GMS Panels
Panels
Genes and Entities

EMG1

EMG1, N1-specific pseudouridine methyltransferase
OMIM: 611531
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bowen-Conradi syndrome