TNPO3:Ensemblv115

transportin 3
OMIM: 610032, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TNPO3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423