Genomics England
GMS Panels
Panels
Genes and Entities

ALG2

ALG2, alpha-1,3/1,6-mannosyltransferase
OMIM: 607905
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG2-CDG 237149
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG2-CDG