1. Genes and Genomic Entities
  2. TPM2

TPM2

tropomyosin 2
OMIM: 190990, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TPM2 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
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
  • Arthrogryposis, distal, type 2B, 601680
  • Nemaline myopathy 4, autosomal dominant, 609285
  • CAP myopathy 2, 609285
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 1A
  • DA1A
  • Arthrogryposis, Distal, Type 2B
  • DA2B
  • distal arthrogryposis
  • Escobar syndrome
  • congenital myopathy
  • nemaline myopathy
  • Nemaline Myopathy, Dominant
Green TPM2 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
    • 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 2, OMIM:609285
    • Nemaline myopathy 4, autosomal dominant, OMIM:609285
    Tags
    • watchlist_moi
    • Q2_23_MOI
    • Q2_23_NHS_review
    Red TPM2 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 multiplex congenita, distal, type 1, 108120
    Green TPM2 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
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ARTHROGRYPOSIS, DISTAL, TYPE 1
    • Arthrogryposis multiplex congenita, distal, type 1, 108120
    • Arthrogryposis, distal, type 2B, 601680
    Green TPM2 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
    Green TPM2 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
    • CAP myopathy 2, 609285
    • Arthrogryposis, distal, type 2B4, 108120
    • Nemaline myopathy 4, autosomal dominant, 609285
    • Arthrogryposis, distal, type 1A, 108120