Genomics England
GMS Panels
Panels
Genes and Entities

EMG1

EMG1, N1-specific pseudouridine methyltransferase
OMIM: 611531
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bowen-Conradi syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bowen-Conradi syndrome, OMIM:211180