1. Genes and Genomic Entities
  2. TNNT3

TNNT3

troponin T3, fast skeletal type
OMIM: 600692, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TNNT3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arthrogryposis, distal, type 2B2, OMIM:618435
  • Arthrogryposis, distal, type 2B2, MONDO:0032750
Green TNNT3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

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 2B2, OMIM:618435
    Red TNNT3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Arthrogryposis, distal, type 2B2, OMIM:618435
    • Arthrogryposis, distal, type 2B2, MONDO:0032750
    Green TNNT3 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis, distal, type 2B2, OMIM:618435
    • Arthrogryposis, distal, type 2B2, MONDO:0032750
    Green TNNT3 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TNNT3-associated congenital myopathy (biallelic)
    Green TNNT3 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, distal, type 2B2, OMIM:618435
    • Arthrogryposis, distal, type 2B2, MONDO:0032750