TTR

transthyretin
OMIM: 176300, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green TTR in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	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 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TTR in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	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 1.1891	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 Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TTR in Additional findings_Adult Level 2: Screening Version 0.166	review	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 0.6063	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 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	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 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	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	review	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 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	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 1.16	review	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 0.192	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH NHS GMS Phenotypes syndromic HCM
Green TTR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	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 0.23	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes DTTRH [Dystransthyretinemic hyperthyroxinemia], 145680
Red TTR in BabyScreen+ newborn screening Level 2: Screening Version 1.113	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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cerebral amyloid angiopathy MONDO:0005620
Green TTR in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210