Genomics England
GMS Panels
Panels
Genes and Entities

AGRN

agrin
OMIM: 103320
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence, MONDO:0008824, Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120