PanelApp
  1. Genes and Genomic Entities
  2. TPM2

TPM2

tropomyosin 2
OMIM: 190990, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TPM2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 1A/2B4 (MIM#108120)

    Green TPM2 in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 1A 108120
    • Arthrogryposis, distal, type 2B4 108120
    • CAP myopathy 2 609285
    • Nemaline myopathy 4, autosomal dominant 609285
    • Multiple pterygium syndrome

    Green TPM2 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple pterygium syndrome

    Green TPM2 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Nemaline myopathy 4, autosomal dominant (MIM#609285)

    Green TPM2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Nemaline myopathy
    • Arthrogryposis multiplex congenita, distal

    Green TPM2 in Fetal anomalies


    Version 1.465

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita, distal, type 1, 108120
    • Arthrogryposis, distal, type 2B, 601680
    • Multiple pterygium syndrome

    Red TPM2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Arthrgryposis MIM#108120
    • Nemaline myopathy MIM#609285