TPM3

tropomyosin 3
OMIM: 191030, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TPM3 in Neuromuscular disorders


Version 5.51
Signed off v.5.43 on 4 Mar 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, with fiber-type disproportion 255310
  • CAP myopathy 1 609284
  • Nemaline myopathy 1, autosomal dominant or recessive 609284

Green TPM3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • 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 2.5
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • 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 609284
    • Myopathy, congenital, with fiber-type disproportion 255310
    • Nemaline myopathy 1, autosomal dominant or recessive 609284

    Red TPM3 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.73
    Signed off v.1.2 on 17 Feb 2020

    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 Severe Paediatric Disorders


    Version 1.6

    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