TTN

titin
OMIM: 188840, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green TTN in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.6 Component of the following Super Panels: Neuromuscular Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes TTN-related myopathy, MONDO:0100175 TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225
Red TTN in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Tags disputed
Green TTN in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.12 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 Cardiomyopathy, dilated, 1G, MIM#604145
Amber TTN in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.1 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Hypertrophic cardiomyopathy MONDO:0005045
Green TTN in Incidentalome Version 1.48	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Dilated cardiomyopathy 1G, MONDO:0011400 TTN-related myopathy, MONDO:0100175 Myopathy, myofibrillar, 9, with early respiratory failure, MONDO:0011362 Tibial muscular dystrophy, MONDO:0010870 TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225 Tags cardiac
Green TTN in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes TTN-related myopathy MONDO:0100175 Tags digenic
Green TTN in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.12 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis
Red TTN in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Phenotypes Congenital titinopathy exercise intolerance
Green TTN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Green TTN in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 2.2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes Dilated cardiomyopathy 1G, MONDO:0011400 Hypertrophic cardiomyopathy, MONDO:0005045
Green TTN in Fetal anomalies Version 2.89	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes TTN-related myopathy MONDO:0100175
Green TTN in Prepair 1000+ Level 2: Screening Version 3.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes TTN-related myopathy MONDO:0100175
Amber TTN in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber BabySeq Category B gene Phenotypes Centronuclear myopathy Cardiomyopathy, dilated
Green TTN in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1G, MIM#604145
Red TTN in Infertility and Recurrent Pregnancy Loss Version 2.51	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Lethal congenital contracture syndrome, MONDO:0017436
Red TTN in Genomic screening in children: BabyScreen+ Level 2: Screening Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Cardiomyopathy, dilated, 1G MIM#604145