TTR

Green TTR in Periodic fever syndromes

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

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

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)

Sources

• Expert Review Green
• Literature

Phenotypes

• [Dystransthyretinemic hyperthyroxinemia], 145680
• DTTRH

Red TTR in Hydrocephalus

Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Amyloidosis, hereditary, transthyretin-related 105210

Tags

• treatable

Green TTR in Adult onset leukodystrophy

Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

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 2.6
Latest signed off version: v2.2 (22 Mar 2023)

Component of the following Super Panels:

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 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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

Sources

• South West GLH
• Emory Genetics Laboratory

Green TTR in Pain syndromes

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

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)

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

Amber TTR in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Amber

Phenotypes

• Amyloidosis, hereditary, transthyretin-related 105210

Tags

• Q4_23_promote_green

Green TTR in Adult onset neurodegenerative disorder

Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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 1.476

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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)

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 3.44
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS
• South West GLH
• South West GLH

Phenotypes

• syndromic HCM

Green TTR in Hereditary neuropathy or pain disorder

Version 3.89
Latest signed off version: v3.24 (15 May 2023)

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

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Carpal tunnel syndrome, familial, 115430
• Amyloidosis, hereditary, transthyretin-related, 105210