TTR:Ensemblv115

transthyretin
OMIM: 176300, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green TTR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TTR in Vasculitis


Level 2: Immunological disorders
Version 1.0

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

Green TTR in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 2.0

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

Green TTR in Amyloidosis


Version 2.0

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

Green TTR in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TTR in Additional findings_Adult


Level 2: Screening
Version 2.0

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

Red TTR in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TTR in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
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 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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 1.0

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

Green TTR in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

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

Green TTR in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related

Green TTR in Hyperthyroidism


Level 2: Endocrine disorders
Version 1.0

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

Green TTR in Cerebral amyloid angiopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TTR in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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