Genomics England
GMS Panels
Panels
Genes and Entities

MYOT

myotilin
OMIM: 604103
PanelMode of inheritanceDetails
2 panels
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 3, OMIM:609200, Myopathy, spheroid body, OMIM:182920
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 3, OMIM:609200, Myopathy, spheroid body, OMIM:182920