TTR

transthyretin
OMIM: 176300, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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