MYL1

myosin light chain 1
OMIM: 160780
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414, Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414, Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109