TNNI2

troponin I2, fast skeletal type
OMIM: 191043, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TNNI2 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • UKGTN
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 2B
Green TNNI2 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert
    • UKGTN
    Phenotypes
    • Arthrogryposis, distal, type 2B1, OMIM:601680
    Green TNNI2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Arthrogryposis multiplex congenita, distal, type 2B 601680