- Home
- Diagnostics
- NGS Panels
- Cardiovascular
Cardiovascular
Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis. Having identified genetic variants associated with cardiology diseases in over 200 different genes, we can support you in providing your patients with a precise diagnosis of a cardiovascular disease. Testing can also identify asymptomatic and at-risk family members, facilitating precautions or interventions to prevent illness or sudden death.
CentoCardioTM
CentoCardio™ includes the most relevant genes for arrythmias, congenital heart disease, and cardiomyopathies. Syndromes included: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorragic telangiectasia. Panel does not include analysis of PKD1.
| No. of genes: | 219 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCC9 | 601439 | Cantu syndrome/ Hypertrichotic osteochondrodysplasia; dilated cardiomyopathy-1O | AD |
| ACTA2 | 102620 | Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 | AD |
| ACTC1 | 102540 | familial hypertrophic cardiomyopathy 11; Atrial septal defect 5; dilated cardiomyopathy-1R | AD |
| ACTN2 | 102573 | dilated cardiomyopathy-1AA | AD |
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | |
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| AKAP9 | 604001 | long QT syndrome 11 | AD |
| ANK2 | 106410 | long QT syndrome-4 | AD |
| ANKRD1 | 609599 | ||
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| B3GAT3 | 606374 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | AR |
| BAG3 | 603883 | Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH | AD |
| BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
| BMPR2 | 600799 | Pulmonary hypertension, familial primary, 1, with or without HHT | AD |
| BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
| CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
| CACNB2 | 600003 | Brugada syndrome 4 | |
| CALM1 | 114180 | Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | AD |
| CALM2 | 114182 | Long QT syndrome 15 | AD |
| CASQ2 | 114251 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | AR |
| CAV3 | 601253 | Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9 | AD, DiD |
| CAVIN4 | 617714 | ||
| CBL | 165360 | Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| CDH2 | 114020 | AD | |
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFC1 | 605194 | Heterotaxy, visceral, 2, autosomal | AD |
| CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
| CITED2 | 602937 | Atrial septal defect 8 | AD |
| CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
| COL1A1 | 120150 | Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3 | AD |
| COL1A2 | 120160 | osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2 | AD, AR |
| COL3A1 | 120180 | vascular-type Ehlers-Danlos syndrome | AD, AR |
| COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
| COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
| COL5A1 | 120215 | Ehlers-Danlos syndrome classic type 1 | AD |
| COL5A2 | 120190 | Ehlers-Danlos syndrome classic type 2 | AD |
| CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| CRYAB | 123590 | Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II | AD, AR |
| CSRP3 | 600824 | dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 | AD |
| CTNNA3 | 607667 | familial arrhythmogenic right ventricular dysplasia type 13 | AD |
| DES | 125660 | Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I | AD, AR |
| DMD | 300377 | Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy | XL, XLR |
| DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
| DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
| DSC2 | 125645 | Arrhythmogenic right ventricular dysplasia 11 | AD, AR |
| DSG2 | 125671 | Arrhythmogenic right ventricular dysplasia 10; dilated cardiomyopathy | AD |
| DSP | 125647 | dilated cardiomyopathy with woolly hair and keratoderma; arrhythmogenic right ventricular dysplasia type 8; lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata II; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD, AR |
| DTNA | 601239 | Left ventricular noncompaction 1, with or without congenital heart defects | AD |
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| EGF | 131530 | Hypomagnesemia 4, renal | |
| EHMT1 | 607001 | Kleefstra syndrome | AD |
| ELN | 130160 | Cutis laxa, autosomal dominant 1, ADCL1; Supravalvar aortic stenosis | AD |
| EMD | 300384 | Emery-Dreifuss muscular dystrophy type 1 | XLR |
| ENG | 131195 | hereditary hemorrhagic telangiectasia type 1 | AD |
| EP300 | 602700 | colorectal cancer; Rubinstein-Taybi syndrome 2 | AD |
| EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| EYA4 | 603550 | Deafness, autosomal dominant 10; dilated cardiomyopathy-1J | AD |
| FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
| FBN2 | 612570 | congenital contractural arachnodactyly; early-onset macular degeneration | AD |
| FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
| FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
| FLNA | 300017 | Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked | XL, XLD, XLR |
| FLNC | 102565 | Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 | AD |
| FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
| FOXF1 | 601089 | Pulmonary hypertension, familial persistent, of the newborn | AD |
| FOXH1 | 603621 | ||
| FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
| GAA | 606800 | Pompe disease | AR |
| GATA4 | 600576 | Tetralogy of Fallot; Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4 | AD |
| GATA5 | 611496 | Congenital heart defects, multiple types, 5 | AD, AR |
| GATA6 | 601656 | Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9 | AD |
| GDF1 | 602880 | Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 | AD, AR |
| GDF2 | 605120 | Telangiectasia, hereditary, hemorragic, type 5 | AD |
| GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
| GJA5 | 121013 | AD | |
| GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
| GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| GPD1L | 611778 | Brugada syndrome 2 | |
| HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
| HCN4 | 605206 | Sick sinus syndrome 2; Brugada syndrome 8 | AD |
| HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
| HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
| HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
| ILK | 602366 | ||
| JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
| JPH2 | 605267 | Cardiomyopathy, familial hypertrophic 17 | AD |
| JUP | 173325 | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | AD, AR |
| KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
| KCNA5 | 176267 | Atrial fibrillation, familial, 7 | AD |
| KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
| KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2; long QT syndrome 5 | AD, AR |
| KCNE2 | 603796 | long QT syndrome 6 | AD |
| KCNE3 | 604433 | Brugada syndrome 6 | |
| KCNH2 | 152427 | long QT syndrome 2 | AD |
| KCNJ2 | 600681 | Andersen Cardiodysrhythmic Periodic Paralysis; Short Qt Syndrome 3; Atrial fibrillation, familial, 9 | AD |
| KCNJ5 | 600734 | Long QT syndrome 13 | AD |
| KCNK3 | 603220 | primary pulmonary hypertension | AD |
| KCNQ1 | 607542 | long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2 | AD, AR |
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
| LAMA4 | 600133 | dilated cardiomyopathy-1JJ | AD |
| LAMP2 | 309060 | Danon disease | XLD |
| LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
| LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
| LZTR1 | 600574 | Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 | AD, AR |
| MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
| MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
| MED13L | 608771 | Mental retardation and distinctive facial features with or without cardiac defects | AD |
| MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
| MFAP5 | 601103 | AD | |
| MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP3 | 185250 | Coronary heart disease, susceptibility to, 6 | |
| MYBPC3 | 600958 | familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM | AD, AR |
| MYH11 | 160745 | familial thoracic aortic aneurysm 4 | AD |
| MYH6 | 160710 | Cardiomyopathy, familial hypertrophic, 14; dilated cardiomyopathy-1EE; Atrial septal defect 3 | AD |
| MYH7 | 160760 | Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S | AD, AR, DiD |
| MYL2 | 160781 | Cardiomyopathy, familial hypertrophic, 10 | AD |
| MYL3 | 160790 | familial hypertrophic cardiomyopathy 8 | AD, AR |
| MYLK | 600922 | Aortic aneurysm, familial thoracic 7 | AD, AR |
| MYLK2 | 606566 | familial hypertrophic cardiomyopathy 1 | AD, DiD |
| MYO6 | 600970 | deafness type 37 | AD, AR |
| MYOZ2 | 605602 | Cardiomyopathy, familial hypertrophic, 16 | AD |
| MYPN | 608517 | dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 | AD, AR |
| NEBL | 605491 | ||
| NEXN | 613121 | dilated cardiomyopathy-1CC; familial hypertrophic cardiomyopathy 20 | AD |
| NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
| NKX2-6 | 611770 | Conotruncal Heart Malformations | |
| NODAL | 601265 | Heterotaxy, visceral, 5, autosomal | AD |
| NOTCH1 | 190198 | aortic valve disease type 1; Adams-Oliver syndrome 5 | AD |
| NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
| NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
| NPPA | 108780 | Atrial standstill 2 | AD, AR |
| NR2F2 | 107773 | Congenital heart defects, multiple types, 4 | AD |
| NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
| NSD1 | 606681 | Sotos syndrome 1 | AD |
| PDLIM3 | 605889 | ||
| PKD1L1 | 609721 | Visceral heterotaxy type 8 | AR |
| PKD2 | 173910 | polycystic kidney disease type 2 | AD |
| PKP2 | 602861 | arrrhythmogenic right ventricular dysplasia 9 | AD |
| PLN | 172405 | dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 | AD |
| PRDM16 | 605557 | left ventricular noncompaction 8 | AD |
| PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
| PRKG1 | 176894 | familial thoracic aortic aneurysm type 8 | AD |
| PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
| PSEN2 | 600759 | Alzheimer disease, type 4; dilated cardiomyopathy-1V | AD |
| PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
| RAF1 | 164760 | Noonan syndrome 5; Cardiomyopathy, dilated, 1NN | AD |
| RASA1 | 139150 | Capillary malformation-arteriovenous malformation | AD |
| RBM10 | 300080 | TARP syndrome | XLR |
| RBM20 | 613171 | dilated cardiomyopathy-1DD | AD |
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| RYR2 | 180902 | Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic, 1 | AD |
| SALL1 | 602218 | Townes-Brocks syndrome | AD |
| SALL4 | 607343 | Okihiro syndrome | AD |
| SCN10A | 604427 | familial episodic pain syndrome, 2 | AD |
| SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
| SCN2B | 601327 | AD | |
| SCN3B | 608214 | Brugada syndrome 7 | AD |
| SCN4B | 608256 | Long Qt Syndrome 10 | AD |
| SCN5A | 600163 | susceptibility to sudden infant death syndrome; Brugada syndrome 1; dilated cardiomyopathy-1E; long QT syndrome 3; Sick sinus syndrome 1; Familial atrial fibrillation type 10 | AD, AR |
| SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
| SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
| SEMA3A | 603961 | hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SGCD | 601411 | limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L | AR |
| SHOC2 | 602775 | Noonan Syndrome-Like Disorder With Loose Anagen Hair | AD |
| SKI | 164780 | Shprintzen-Goldberg Craniosynostosis Syndrome | AD |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
| SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
| SLC2A10 | 606145 | arterial tortuosity syndrome | AR |
| SLMAP | 602701 | ||
| SMAD3 | 603109 | Loeys-Dietz syndrome 3 | AD |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| SMAD6 | 602931 | Aortic valve disease 2; Craniosynostosis type 7 | AD |
| SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
| SNTA1 | 601017 | long QT syndrome 12 | AD |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| SOS2 | 601247 | Noonan syndrome type 9 | AD |
| SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
| SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5 | AD |
| TAB2 | 605101 | Congenital heart defects, nonsyndromic, 2 | AD |
| TAZ | 300394 | Barth syndrome | XLR |
| TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
| TBX20 | 606061 | Atrial septal defect 4 | |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCAP | 604488 | limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 | AD, AR |
| TFAP2B | 601601 | Char syndrome; Patent ductus arteriosus 2 | AD |
| TGFB2 | 190220 | Loeys-Dietz syndrome 4 | AD |
| TGFB3 | 190230 | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 | AD |
| TGFBR1 | 190181 | Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 | AD |
| TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
| TLL1 | 606742 | Atrial septal defect 6 | AD |
| TMEM43 | 612048 | arrhythmogenic right ventricular dysplasia 5 | AD |
| TNNC1 | 191040 | dilated cardiomyopathy-1Z; familial hypertrophic cardiomyopathy 13 | AD |
| TNNI3 | 191044 | Cardiomyopathy, familial restrictive, 1; dilated cardiomyopathy-2A; familial hypertrophic cardiomyopathy 7 | AD, AR |
| TNNT2 | 191045 | familial hypertrophic cardiomyopathy 2; dilated cardiomyopathy-1D | AD |
| TPM1 | 191010 | Cardiomyopathy, familial hypertrophic, 3; dilated cardiomyopathy-1Y | AD |
| TRDN | 603283 | catecholaminergic polymorphic ventricular tachycardia type 5 | AR |
| TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
| TRIM63 | 606131 | ||
| TRPM4 | 606936 | AD | |
| TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
| TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
| TTR | 176300 | familial transthyretin amyloidosis | AD |
| VCL | 193065 | dilated cardiomyopathy-1W; Cardiomyopathy, familial hypertrophic, 15 | AD |
| ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
| ZFPM2 | 603693 | Tetralogy of Fallot; Diaphragmatic hernia 3; 46XY sex reversal 9 | AD |
| ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |