TTR

transthyretin
OMIM: 176300, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Green TTR in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Amyloidosis, Hereditary, Transthyretin-Related, 105210
  • Familial Transthyretin Amyloidosis
Tags
  • treatable
Amber TTR in Familial dysautonomia


Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • treatable
Green TTR in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • [Dystransthyretinemic hyperthyroxinemia], 145680
  • DTTRH
Red TTR in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • treatable
  • adult-onset
Green TTR in Hereditary systemic amyloidosis


Version 1.21
Latest signed off version: v1.18 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related 105210
    Tags
    • treatable
    Green TTR in Adult onset leukodystrophy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, OMIM:105210
    • familial amyloid neuropathy, MONDO:0007100
    Green TTR in Progressive cardiac conduction disease


    Version 2.8
    Latest signed off version: v2.7 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Heart conduction disease, MONDO:0000992
    Green TTR in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.12
    Latest signed off version: v4.8 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Green
    • Wessex and West Midlands GLH
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiac amyloidosis
    • Amyloidosis, hereditary, transthyretin-related, 105210
    Tags
    • treatable
    Red TTR in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Emory Genetics Laboratory
    Green TTR in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Hereditary amyloidosis
    • Amyloidosis, hereditary, transthyretin-related, 105210
    • Familial amyloid polyneuropathy
    • Carpal tunnel syndrome, familial, 115430
    Tags
    • treatable
    Red TTR in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Carpal tunnel syndrome, familial, 115430
    • Hereditary amyloidosis
    • Amyloidosis, hereditary, transthyretin-related, 105210
    • Familial amyloid polyneuropathy
    Tags
    • treatable
    Green TTR in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related 105210
    Green TTR in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, OMIM:105210
    • Carpal tunnel syndrome, familial, OMIM:115430
    Green TTR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, 105210
    • FAP
    • Cardiomyopathy
    Tags
    • treatable
    Red TTR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Red TTR in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related 105210
    • Carpal tunnel syndrome, familial 115430
    • Dystransthyretinemic hyperthyroxinemia 145680
    Tags
    • treatable
    Green TTR in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • South West GLH
    • South West GLH
    Phenotypes
    • syndromic HCM
    Green TTR in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, 105210
    • FAP
    • Cardiomyopathy
    Green TTR 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
    • Carpal tunnel syndrome, familial, 115430
    • Amyloidosis, hereditary, transthyretin-related, 105210