1. Genes and Genomic Entities
  2. TPM3

TPM3

tropomyosin 3
OMIM: 191030, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TPM3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Myopathy, congenital, with fiber-type disproportion 255310
Green TPM3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • CAP myopathy 1, OMIM:609284
    • Myopathy, congenital, with fiber-type disproportion, OMIM:255310
    • Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
    Red TPM3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • CAP myopathy 1, 609284
    • Nemaline myopathy 1, autosomal dominant or recessive, 609284
    • Nemaline myopathy
    • congenital myopathy
    Green TPM3 in Fetal anomalies


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

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Congenital fiber-type disproportion myopathy 255310
    Green TPM3 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Nemaline/Cap myopathy
    Green TPM3 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nemaline myopathy 1, autosomal dominant or recessive, 609284
    • CAP myopathy 1, 609284
    • Myopathy, congenital, with fiber-type disproportion, 255310
    Red TPM3 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Megacolon