Genomics England
GMS Panels
Panels
Genes and Entities

TNPO3

transportin 3
OMIM: 610032
PanelMode of inheritanceDetails
1 panel
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, imprinted status unknown
Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423