PanelApp
  1. Genes and Genomic Entities
  2. TTR

TTR

transthyretin
OMIM: 176300, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green TTR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, MIM# 105210

    Green TTR in Vasculitis


    Level 2: Immunological disorders
    Version 0.93

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TTR in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.10

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related MIM#105210
    Tags
    • treatable

    Green TTR in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, MIM #105210
    • Carpal tunnel syndrome, familial, MIM# 115430
    Tags
    • treatable

    Green TTR in Amyloidosis


    Version 1.1

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • hereditary ATTR amyloidosis MONDO:0017132

    Green TTR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TTR in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary transthyretin-related amyloidosis MIM#105210

    Red TTR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, OMIM #105210
    • Carpal tunnel syndrome, familial
    • OMIM #115430

    Red TTR in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, MIM# 105210

    Green TTR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related MIM#105210
    • Cardiomyopathy
    • Amyloidogenic transthyretin amyloidosis
    • HSAN/SFN

    Red TTR in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Red
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related 105210
    • Carpal tunnel syndrome, familial 115430
    • Dystransthyretinemic hyperthyroxinemia 145680

    Green TTR in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hereditary amyloidosis
    • Amyloidosis, hereditary, transthyretin-related, 105210
    • Familial amyloid polyneuropathy
    • Carpal tunnel syndrome, familial, 115430

    Green TTR in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related, MIM# 105210

    Green TTR in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • syndromic HCM

    Green TTR 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
    • Amyloidosis, hereditary, transthyretin-related

    Green TTR in Hyperthyroidism


    Level 2: Endocrine disorders
    Version 0.24

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • DTTRH
    • [Dystransthyretinemic hyperthyroxinemia], 145680

    Red TTR 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
    • Amyloidosis, hereditary, transthyretin-related MIM#105210

    Green TTR in Cerebral amyloid angiopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • cerebral amyloid angiopathy MONDO:0005620

    Green TTR in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, hereditary, transthyretin-related MIM#105210

    Green TTR in Cardiac conduction disease


    Level 2: Cardiovascular disorders
    Version 1.3

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hereditary amyloidosis MONDO:0018634