TNNI1

troponin I1, slow skeletal type
OMIM: 191042, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TNNI1 in Congenital myopathy


Level 2: Neurology
Version 7.36
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypocontractile muscle disease
    Tags
    • gene-checked
    Green TNNI1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease
    Tags
    • gene-checked