Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

TARDBP
TAR DNA binding protein



1p36.2
* amyotrophic lateral sclerosis 10 - ALS10 (4.29, 12.63)
* Distal myopathy, late-onset - (4.29, 12.63)

TAZ
Tafazzin



Xq28
* Barth syndrome - BTHS (10.103, 10.90)
* Endocardial fibroelastosis-2 - G4.5 (10.103, 10.90)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.103, 10.90)
* Cardiomyopathy, X-linked dilated - CMD3A (10.103, 10.90)

TBK1
Tank-binding kinase 1



12q14.2
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.88)

TBP
TATA box binding protein



6q27
* Spinocerebellar ataxia 17 - SCA17 (13.15)

TCAP
Telethonin



17q12
* Dilated cardiomyopathy, 1N - (2.16, 10.27, 10.51)
* Congenital musuclar dystrophy with telethonin defect - (2.16, 10.27, 10.51)
* Hypertrophic cardiomyopathy related to TCAP - CMH25 (2.16, 10.27, 10.51)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (2.16, 10.27, 10.51)

TDP1
Tyrosyl-DNA phosphodiesterase 1



14q31-q32
* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.94)

TDP2
Tyrosyl-DNA phosphodiesterase 2



6p22.3
* Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.83)

TECPR2
Tectonin beta-propeller repeat containing 2



14q32
* Spastic paraplegia 49, autosomal recessive - SPG49 (14.114, 15.49)
* Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay - HSAN9 (14.114, 15.49)

TECRL
Trans-2,3-Enoyl-CoA Reductase-Like Protein



4q13.1
* Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.130)

TFG
TRK-fused gene



3q13
* Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.71, 15.57)
* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.71, 15.57)
* Spastic paraplegia 57, autosomal recessive - SPG57 (14.71, 15.57)

TGFB3
Transforming growth factor, beta 3



14q24.3
* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.115)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.115)

TGM6
Transglutaminase 6



20p13
* Spinocerebellar ataxia 35 - SCA35 (13.31)

THAP11
THAP domain-containing protein 11



16q22.1
* Spinocerebellar ataxia 51 - SCA51 (13.47)

THG1L
tRNA-histidine guanyltransferase 1-like protein



5q33.3
* Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.88)

THOC2
Tho complex, subunit 2



Xq25
* Arthrogryposis multiplex congenita 7, X-linked - AMC7 (17.26)

TIA1
Cytotoxic granuleassociated RNA binding protein



2p13
* Welander distal myopathy - WDM (4.14, 4.15, 12.79)

TIMM22
Translocase of inner mitochondrial membrane 22(M)



17q13.3
* Combined oxidative phosphorylation deficiency 43 - COXPD43 (16.25)

TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.9, 16.13)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.9, 16.13)

TMEM126B
Transmembrane protein 126B(M)



11q14.1
* Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.31)

TMEM168
Transmembrane protein 168



7q31.1
* Brugada syndrome - BRGDA (10.186)

TMEM240
Transmembrane protein 240



1p36.33
* Spinocerebellar ataxia 19 - SCA21 (13.19)

TMEM43
Transmembrane 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)

TMEM63C
Transmembrane protein 63c



14q324.3
* Spastic paraplegia 87, autosomal recessive - SPG87 (15.76)

TMEM65
Transmembrane Protein 65



8q24.13
* Mitochondrial myopathy with severe neurological manifestations - (16.27)

TMPO
Lamina-associated polypeptide 2



12q22
* Cardiomyopathy, dilated, 1T - CMT1T (10.57)

TNNC1
Slow troponin C



3p21.3-p14.3
* Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.63)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.63)

TNNC2
Troponin C Fast



20q13.12
* Congenital myopathy 15 - CMYP15 (3.54)

TNNI2
Troponin I, type 2



11p15.5
* Arthrogryposis, distal, type 2B - DA2B (17.12)

TNNI3
Troponin I, cardiac



19q13.4
* Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.69, 10.81, 10.96)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.69, 10.81, 10.96)
* Cardiomyopathy, familial restrictive - RCM (10.6, 10.69, 10.81, 10.96)

TNNT1
Slow troponin T



19q13.4
* Nemaline myopathy 5 - NEM5 (3.7)

TNNT2
Troponin T2, cardiac



1q32
* Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.109, 10.42, 10.98)
* Left ventricular noncompaction 6 - LVNC6 (10.2, 10.109, 10.42, 10.98)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.109, 10.42, 10.98)

TNNT3
Troponin T3, skeletal



11p15.5
* Arthrogryposis, distal, type 2B - DA2B (3.16, 17.13)
* Nemalin myopathy with distal arthrogryposis - (3.16, 17.13)

TNPO3
Transportin 3



7q32.1-q32.2
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.17, 3.62)
* Congenital Myopathy related to TNPO3 - (1.17, 3.62)

TOMM70
Translocase of Outer Mitochondrial Membrane 70



3q12.2
* Neurological impairment - (13.55)

TOP3A
DNA topoisomerase III



17p11.2
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.11)

TOR1A
Torsin A



9q34
* Torsion dystonia, early onset - EOTD (17.1)

TOR1AIP1
Torsin 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)

TPM1
Tropomyosin 1 (alpha)



15q22
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.112, 10.62)
* Left ventricular noncompaction 9 - LVNC9 (10.3, 10.112, 10.62)
* Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.112, 10.62)

TPM2
Tropomyosin 2 (beta)



9p13
* Arthrogryposis, distal, type 1A - DA1A (3.6, 3.36, 17.9, 17.15)
* arthrogryposis, distal, type 2B - DA2B (3.6, 3.36, 17.9, 17.15)
* Cap myopathy, TPM2-related, included - (3.6, 3.36, 17.9, 17.15)
* Nemaline myopathy 4 - NEM4 (3.6, 3.36, 17.9, 17.15)

TPM3
Tropomyosin 3



1q21.2
* Nemaline myopathy 1, autosomal dominant - NEM1 (3.3, 3.4)

TPP1
Tripeptidyl peptidase I



11p15.4
* Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.67)

TRAPPC11
Trafficking protein particle complex 11



4q35.1
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.35, 2.42)
* Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.35, 2.42)

TRAPPC2L
Trafficking protein particle complex 2-like



16q24.3
* Congenital muscular dystrophy related to TRAPPC2L - (2.52)

TRDN
Triadin



6q22.31
* Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - CPVT5 (10.132)

TRIM2
Tripartite motif containing 2



4q31.3
* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.90)

TRIM32
Tripartite motif-containing 32



9q33.2
* Sarcotubular myopathy - (1.31, 3.42)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.31, 3.42)

TRIM54
Tripartite motif-containing 54



2p.23.3
* Cardiac and skeletal aggregate myopathy - (5.14)

TRIM63
Tripartite motif containing 63, E3 ubiquitin protein ligase



1p36.11
* Cardiac and skeletal aggregate myopathy - (5.14)

TRIP4
Thyroid hormone receptor interactor 4



15q22.31
* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.48, 12.16)
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.48, 12.16)

TRPC3
Transient receptor potential cation channel subfamily C member 3



4q27
* Spinocerebellar ataxia 41 - SCA41 (13.36)

TRPV4
Transient receptor potential cation channel, subfamily V, member 4



12q23-q24
* Scapuloperoneal spinal muscular atrophy - SPSMA (12.30, 12.39, 14.50)
* Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.30, 12.39, 14.50)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.30, 12.39, 14.50)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.30, 12.39, 14.50)

TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
* Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.32)

TTBK2
Tau tubulin kinase 2



15q15.2
* Spinocerebellar ataxia 11 - SCA11 (13.10)

TTN
Titin



2q31
* Hereditary myopathy with early respiratory failure - HMERF (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Congenital myopathy with fatal cardiomyopathy - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Cardiomyopathy, dilated, 1G - CMD1G (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Centronuclear myopathy related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* LGMDR10 (Formerly LGMD2J) - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Lethal Congenital Contracture Syndrome related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Tibial muscular dystrophy, tardive - TMD (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)

TTPA
Tocopherol (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)

TTR
Transthyretin (prealbumin, amyloidosis type I)



18q12.1
* Familial amyloid neuropathy - (17.4)

TUBA4A
Tubulin, Alpha-4A



2q35
* Amyotrophic lateral sclerosis 22 - ALS22 (12.75)

TUBB3
Tubulin, beta 3



16q24.3
* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (17.7)

TWNK
Twinkle mtDNA helicase



10q23.-q24.1
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.60, 16.3)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.60, 16.3)

TYMP
Thymidine phosphorylase



22q13.33
* Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.12)