1. Genes and Genomic Entities
  2. TNNT3

TNNT3

troponin T3, fast skeletal type
OMIM: 600692, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red TNNT3 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arthyrogryposis, distal, type 2B 601680
Green TNNT3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • UKGTN
  • 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 4.37
Latest signed off version: v4.0 (22 Mar 2023)

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 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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