TTN

titin
OMIM: 188840, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green TTN in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Tibial muscular dystrophy, tardive, 600334

    Green TTN in Neuromuscular disorders


    Version 5.164
    Latest signed off version: v5.43 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, early-onset, with fatal cardiomyopathy 611705
    • Muscular dystrophy, limb-girdle, type 2J
    • Tibial muscular dystrophy, tardive, 600334

    Red TTN in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.21
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Red
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 9,

    Red TTN in Arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 1G, 604145
    Tags
    • for-review

    Green TTN in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Tibial muscular dystrophy, tardive (600334)
    • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
    • Cardiomyopathy, dilated, 1G
    • Cardiomyopathy, familial hypertrophic, 9 (613765)
    • Salih myopathy (611705)
    • Myopathy, proximal, with early respiratory muscle involvement (603689)
    • Cardiomyopathy, dilated, 1G (604145)

    Red TTN in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green TTN in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Congenital titinopathy with arthrogryposis
    • Hereditary Myopathy with Early Respiratory Failure
    • Cardiomyopathy, familial hypertrophic, 9, 613765
    • Hereditary Myopathy with Early Respiratory Failure (dominant)
    • Udd Distal Myopathy (Dominant)
    • Salih Myopathy (recessive)
    • core myopathy with heart disease

    Green TTN in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myopathy, early-onset, with fatal cardiomyopathy, 611705

    Green TTN in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2J, 608807
    • Limb girdle muscular dystrophy
    • Distal myopathy
    • Myofibrillar myopathy
    • Congenital myopathy
    • dilated cardiomyopathy
    • HMERF
    • arthrogryposis

    Green TTN in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.24
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Myopathy, proximal, with early respiratory muscle involvement (603689)
    • Cardiomyopathy, familial hypertrophic, 9 (613765)
    • Tibial muscular dystrophy, tardive (600334)
    • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
    • Cardiomyopathy, dilated, 1G (604145)
    • Salih myopathy (611705)
    • Cardiomyopathy, dilated, 1G

    Green TTN in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • congenital titinopathy with arthrogryposis

    Red TTN in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705

    Red TTN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green TTN in Paediatric disorders - additional genes


    Version 1.93
    Latest signed off version: v1.1 (11 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

    Red TTN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1074
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert Review Red

    Green TTN in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Red TTN in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green TTN in Severe Paediatric Disorders


    Version 1.77

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tibial muscular dystrophy, tardive, 600334
    • Salih myopathy, 611705
    • Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807
    • Myopathy, myofibrillar, 9, with early respiratory failure, 603689
    • Cardiomyopathy, familial hypertrophic, 9, 613765
    • Cardiomyopathy, dilated, 1G, 604145