Genomics England
GMS Panels
Panels
Genes and Entities

MYO9A

myosin IXA
OMIM: 604875
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 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198, Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198, Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597