Genomics England
GMS Panels
Panels
Genes and Entities

GLE1

GLE1, RNA export mediator
OMIM: 603371
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 1, 253310, Arthrogryposis, lethal, with anterior horn cell disease, 611890, lethal arthrogryposis with anterior horn cell disease
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE