Genomics England
GMS Panels
Panels
Genes and Entities

MYL2

myosin light chain 2
OMIM: 160781
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
Green
in Hypertrophic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R131
Signed-off version 4.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 10, Cardiomyopathy, familial hypertrophic, 10 (608758)
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 10