Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
TARDBPTAR DNA binding protein | 1p36.2 | * amyotrophic lateral sclerosis 10 - ALS10 (12.61)
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| Xq28 | * Barth syndrome - BTHS (10.103, 10.91) * Endocardial fibroelastosis-2 - G4.5 (10.103, 10.91) * Noncompaction of left ventricular myocardium, isolated - INVM (10.103, 10.91) * Cardiomyopathy, X-linked dilated - CMD3A (10.103, 10.91)
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TBK1Tank-binding kinase 1 | 12q14.2 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.84)
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TBPTATA box binding protein | 6q27 | * Spinocerebellar ataxia 17 - SCA17 (13.15)
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| 17q12 | * Dilated cardiomyopathy, 1N - (1.31, 2.16, 10.27, 10.52) * Congenital musuclar dystrophy with telethonin defect - (1.31, 2.16, 10.27, 10.52) * Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.31, 2.16, 10.27, 10.52) * Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.31, 2.16, 10.27, 10.52)
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TDP1Tyrosyl-DNA phosphodiesterase 1 | 14q31-q32 | * spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.94)
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TDP2Tyrosyl-DNA phosphodiesterase 2 | 6p22.3 | * Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.83)
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TECPR2Tectonin beta-propeller repeat containing 2 | 14q32 | * Spastic paraplegia 49, autosomal recessive - SPG49 (15.52)
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TECRLTrans-2,3-Enoyl-CoA Reductase-Like Protein | 4q13.1 | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.130)
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| 3q13 | * Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.78, 15.60) * Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.78, 15.60) * Spastic paraplegia 57, autosomal recessive - SPG57 (14.78, 15.60)
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TGFB3Transforming growth factor, beta 3 | 14q24.3 | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.115) * Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.115)
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| 20p13 | * Spinocerebellar ataxia 35 - SCA35 (13.32)
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THG1LtRNA-histidine guanyltransferase 1-like protein | 5q33.3 | * Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.88)
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TIA1Cytotoxic granuleassociated RNA binding protein | 2p13 | * Welander distal myopathy - WDM (4.14, 4.15)
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TIMM22Translocase of inner mitochondrial membrane 22(M) | 17q13.3 | * Combined oxidative phosphorylation deficiency 43 - COXPD43 (16.66)
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TK2Thymidine kinase 2, mitochondrial(M) | 16q22-q23 | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.42, 16.46) * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.29, 16.42, 16.46)
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TMEM126BTransmembrane protein 126B(M) | 11q14.1 | * Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.82)
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TMEM168Transmembrane protein 168 | 7q31.1 | * Brugada syndrome - BRGDA (10.186)
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TMEM240Transmembrane protein 240 | 1p36.33 | * Spinocerebellar ataxia 19 - SCA21 (13.19)
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TMEM43Transmembrane protein 43 | 3p25.1 | * luma related muscular dystrophy - (1.8, 10.119) * arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.119) * Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.119)
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TMEM63CTransmembrane protein 63c | 14q324.3 | * Spastic paraplegia 87, autosomal recessive - SPG87 (15.79)
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TMEM65Transmembrane Protein 65 | 8q24.13 | * Mitochondrial myopathy with severe neurological manifestations - (16.71)
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TMPOLamina-associated polypeptide 2 | 12q22 | * Cardiomyopathy, dilated, 1T - CMT1T (10.58)
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| 3p21.3-p14.3 | * Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.64) * Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.64)
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| 20q13.12 | * Congenital myopathy 15 - CMYP15 (3.43)
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| 11p15.5 | * Arthrogryposis, distal, type 2B - DA2B (16.12)
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| 19q13.4 | * Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.70, 10.82, 10.96) * Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.70, 10.82, 10.96) * Cardiomyopathy, familial restrictive - RCM (10.6, 10.70, 10.82, 10.96)
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| 19q13.4 | * Nemaline myopathy 5 - NEM5 (3.8)
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TNNT2Troponin T2, cardiac | 1q32 | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.109, 10.43, 10.98) * Left ventricular noncompaction 6 - LVNC6 (10.2, 10.109, 10.43, 10.98) * Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.109, 10.43, 10.98)
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TNNT3Troponin T3, skeletal | 11p15.5 | * Arthrogryposis, distal, type 2B - DA2B (3.17, 16.13) * Nemalin myopathy with distal arthrogryposis - (3.17, 16.13)
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| 7q32.1-q32.2 | * Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.17) * Congenital Myopathy related to TNPO3 - (1.17, 1.17)
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TOMM70Translocase of Outer Mitochondrial Membrane 70 | 3q12.2 | * Neurological impairment - (13.55)
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TOP3ADNA topoisomerase III | 17p11.2 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.44)
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| 9q34 | * Torsion dystonia, early onset - EOTD (16.1)
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TOR1AIP1Torsin A interacting protein 1 | 1q25.2 | * LAP1B related muscular dystrophy - (1.9, 11.41) * Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 11.41) * Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 11.41) * Congenital myasthenic syndrome - (1.9, 11.41)
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TPM1Tropomyosin 1 (alpha) | 15q22 | * Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.112, 10.63) * Left ventricular noncompaction 9 - LVNC9 (10.3, 10.112, 10.63) * Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.112, 10.63)
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| 9p13 | * Arthrogryposis, distal, type 1A - DA1A (3.7, 3.50, 16.9, 16.15) * arthrogryposis, distal, type 2B - DA2B (3.7, 3.50, 16.9, 16.15) * Cap myopathy, TPM2-related, included - (3.7, 3.50, 16.9, 16.15) * Nemaline myopathy 4 - NEM4 (3.7, 3.50, 16.9, 16.15)
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| 1q21.2 | * Nemaline myopathy 1, autosomal dominant - NEM1 (3.4, 3.5)
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TPP1Tripeptidyl peptidase I | 11p15.4 | * Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.67)
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TRAPPC11Trafficking protein particle complex 11 | 4q35.1 | * Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.36, 2.51) * Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.36, 2.51)
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TRAPPC2LTrafficking protein particle complex 2-like | 16q24.3 | * Congenital muscular dystrophy related to TRAPPC2L - (2.54)
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| 6q22.31 | * Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - CPVT5 (10.132)
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TRIM2Tripartite motif containing 2 | 4q31.3 | * Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.93)
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TRIM32Tripartite motif-containing 32 | 9q33.2 | * Sarcotubular myopathy - (1.32, 5.42) * Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.32, 5.42)
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TRIM54Tripartite motif-containing 54 | 2p.23.3 | * Cardiac and skeletal aggregate myopathy - (5.14)
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TRIM63Tripartite motif containing 63, E3 ubiquitin protein ligase | 1p36.11 | * Cardiac and skeletal aggregate myopathy - (5.14)
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TRIP4Thyroid hormone receptor interactor 4 | 15q22.31 | * Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.5) * Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.5)
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TRPC3Transient receptor potential cation channel subfamily C member 3 | 4q27 | * Spinocerebellar ataxia 41 - SCA41 (13.37)
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TRPV4Transient receptor potential cation channel, subfamily V, member 4 | 12q23-q24 | * Scapuloperoneal spinal muscular atrophy - SPSMA (12.11, 12.31, 14.57) * Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.11, 12.31, 14.57) * Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.11, 12.31, 14.57) * Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.11, 12.31, 14.57)
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TSFMTs translation elongation factor, mitochondrial(M) | 12q14.1 | * Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.33)
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TTBK2Tau tubulin kinase 2 | 15q15.2 | * Spinocerebellar ataxia 11 - SCA11 (13.10)
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| 2q31 | * Hereditary myopathy with early respiratory failure - HMERF (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Congenital myopathy with fatal cardiomyopathy - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Cardiomyopathy, dilated, 1G - CMD1G (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Centronuclear myopathy related to TTN - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * LGMDR10 (Formerly LGMD2J) - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Lethal Congenital Contracture Syndrome related to TTN - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Tibial muscular dystrophy, tardive - TMD (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98) * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.33, 3.25, 3.29, 3.30, 4.4, 5.10, 10.8, 10.45, 12.98)
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TTPATocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) | 8q13.1-q13.3 | * Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.59) * Ataxia with isolated vitamin E deficiency - TTPA (13.59)
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TTRTransthyretin (prealbumin, amyloidosis type I) | 18q12.1 | * Familial amyloid neuropathy - (16.4)
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| 2q35 | * Amyotrophic lateral sclerosis 22 - ALS22 (12.73)
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| 16q24.3 | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
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TWNKTwinkle mtDNA helicase | 10q23.-q24.1 | * Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.60, 16.36) * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.60, 16.36)
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TYMPThymidine phosphorylase | 22q13.33 | * Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.45)
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