PanelApp
  1. Genes and Genomic Entities
  2. TTR

TTR

transthyretin
OMIM: 176300, ClinGen, DECIPHER

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green TTR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.55

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 Hypertrophic cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.25

    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 1.4541

    		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 0.607

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

    Green TTR in Additional findings_Adult


    Level 2: Screening
    Version 2.0

    		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 1.699

    		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


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.148

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • 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


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • 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

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.32

    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 0.38

    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 1.46

    		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 0.224

    		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 0.280

    		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 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.25

    		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 1.147

    		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 0.21

    		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 1.6

    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