Genomics England
GMS Panels
Panels
Genes and Entities

AGRN

agrin
OMIM: 103320
PanelMode of inheritanceDetails
1 panel
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120