TTR

transthyretin
OMIM: 176300, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green TTR in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.12

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 1.9

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

Amber TTR in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.7
Latest signed off version: v2.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • [Dystransthyretinemic hyperthyroxinemia], 145680
  • DTTRH
Tags
  • for-review

Red TTR in Hydrocephalus


Version 2.99
Latest signed off version: v2.3 (2 Mar 2020)

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 Amyloidosis


Version 1.8
Latest signed off version: v1.2 (13 Feb 2020)

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 Progressive cardiac conduction disease


    Version 1.37
    Latest signed off version: v1.5 (20 Aug 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 - 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
    • 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 1.70

    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 1.9

    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 1.12
    Latest signed off version: v1.2 (27 Feb 2020)

    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 Hereditary neuropathy

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

    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 3.1080
    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
    • Victorian Clinical Genetics Services

    Red TTR in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.12
    Latest signed off version: v2.2 (2 Mar 2020)

    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 Cardiomyopathies - including childhood onset


    Version 1.42
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


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

    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 1.77

    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