TTN

titin
OMIM: 188840, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green TTN in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Salih myopathy
    • Muscular dystrophy, limb-girdle, autosomal recessive 10

    Green TTN in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.37

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1G, MIM#604145

    Amber TTN in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.0

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypertrophic cardiomyopathy

    Green TTN in Incidentalome


    Version 0.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Tags
    • cardiac

    Green TTN in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert Review
    Phenotypes
    • TTN-related myopathy MONDO:0100175
    Tags
    • digenic

    Green TTN in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 1G, MIM# 604145

    Green TTN in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • dilated cardiomyopathy
    • Distal myopathy
    • HMERF
    • Myofibrillar myopathy
    • Congenital myopathy
    • Muscular dystrophy, limb-girdle, type 2J, 608807
    • arthrogryposis

    Red TTN in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Congenital titinopathy
    • exercise intolerance

    Green TTN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)

    Green TTN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 9,
    • Cardiomyopathy, dilated, 1G

    Amber TTN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    • BabySeq Category A gene
    Phenotypes
    • Centronuclear myopathy
    • Cardiomyopathy, dilated

    Green TTN in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Salih myopathy
    • Muscular dystrophy, limb-girdle, autosomal recessive 10

    Amber TTN in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)

    Amber TTN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Centronuclear myopathy
    • Cardiomyopathy, dilated

    Green TTN in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1G, MIM#604145