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 (12.48)

TAZ
Tafazzin



Xq28
* Barth syndrome - BTHS (10.57, 10.75)
* Endocardial fibroelastosis-2 - G4.5 (10.57, 10.75)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.57, 10.75)
* Cardiomyopathy, X-linked dilated - CMD3A (10.57, 10.75)

TBP
TATA box binding protein



6q27
* Spinocerebellar ataxia 17 - SCA17 (13.15)

TCAP
Telethonin



17q12
* Dilated cardiomyopathy, 1N - (1.27, 2.17, 10.43)
* Congenital musuclar dystrophy with telethonin defect - (1.27, 2.17, 10.43)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.27, 2.17, 10.43)

TDP1
Tyrosyl-DNA phosphodiesterase 1



14q31-q32
* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.60)

TECPR2
tectonin beta-propeller repeat containing 2



14q32
* Spastic paraplegia 49, autosomal recessive - SPG49 (15.44)

TFG
TRK-fused gene



3q13
* Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.63, 15.52)
* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.63, 15.52)
* Spastic paraplegia 57, autosomal recessive - SPG57 (14.63, 15.52)

TGFB3
Transforming growth factor, beta 3



14q24.3
* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.79)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.79)

TGM6
Transglutaminase 6



20p13
* Spinocerebellar ataxia 35 - SCA35 (13.32)

TIA1
Cytotoxic granuleassociated RNA binding protein



2p13
* Welander distal myopathy - WDM (4.7)

TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.21)

TMEM240
transmembrane protein 240



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

TMEM43
Transmembrane protein 43



3p25.1
* luma related muscular dystrophy - (1.8, 10.83)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.83)
* Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.83)

TMEM5
Transmembrane protein 5



12q14.2
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)

TMPO
Lamina-associated polypeptide 2



12q22
* Cardiomyopathy, dilated, 1T - CMT1T (10.49)

TNNC1
Slow troponin C



3p21.3-p14.3
* Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.53)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.53)

TNNI2
Troponin I, type 2



11p15.5
* Arthrogryposis, distal, type 2B - DA2B (16.10)

TNNI3
Troponin I, cardiac



19q13.4
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.64, 10.72)
* Cardiomyopathy, familial restrictive - RCM (10.6, 10.64, 10.72)

TNNT1
Slow troponin T



19q13.4
* Nemaline myopathy 5 - NEM5 (3.5)

TNNT2
Troponin T2, cardiac



1q32
* Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.34)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.34)

TNNT3
Troponin T3, skeletal



11p15.5
* Arthrogryposis, distal, type 2B - DA2B (16.11)

TNPO3
Transportin 3



7q32.1-q32.2
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18)

TOR1A
Torsin A



9q34
* Torsion dystonia, early onset - EOTD (16.1)

TOR1AIP1
Torsin A interacting protein 1



1q25.2
* LAP1B related muscular dystrophy - (1.9, 1.45)
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.45)

TPM1
Tropomyosin 1 (alpha)



15q22
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.52)
* Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.52)

TPM2
Tropomyosin 2 (beta)



9p13
* Arthrogryposis, distal, type 1A - DA1A (3.4, 3.36, 16.8, 16.13)
* arthrogryposis, distal, type 2B - DA2B (3.4, 3.36, 16.8, 16.13)
* Cap myopathy, TPM2-related, included - (3.4, 3.36, 16.8, 16.13)
* Nemaline myopathy 4 - NEM4 (3.4, 3.36, 16.8, 16.13)

TPM3
Tropomyosin 3



1q21.2
* Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.13, 3.37)

TRAPPC11
trafficking protein particle complex 11



4q35.1
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.39, 2.45)
* Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.39, 2.45)

TRIM2
Tripartite motif containing 2



4q31.3
* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.57)

TRIM32
Tripartite motif-containing 32



9q33.2
* Sarcotubular myopathy - (1.28, 3.43)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.28, 3.43)

TRIM54
Tripartite motif-containing 54



2p.23.3
* Cardiac and skeletal aggregate myopathy - (5.10)

TRIM63
Tripartite motif containing 63, E3 ubiquitin protein ligase



1p36.11
* Cardiac and skeletal aggregate myopathy - (5.10)

TRIP4
thyroid hormone receptor interactor 4



15q22.31
* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.34)
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.34)

TRPC3
transient receptor potential cation channel subfamily C member 3



4q27
* Spinocerebellar ataxia 41 - SCA41 (13.37)

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



12q23-q24
* Scapuloperoneal spinal muscular atrophy - SPSMA (12.24, 12.25, 14.43)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.24, 12.25, 14.43)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.24, 12.25, 14.43)

TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
* Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.24)

TTBK2
Tau tubulin kinase 2



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

TTN
Titin



2q31
* Hereditary myopathy with early respiratory failure - HMERF (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Congenital myopathy with fatal cardiomyopathy - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Cardiomyopathy, dilated, 1G - CMD1G (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Centronuclear myopathy related to TTN - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Tibial muscular dystrophy, tardive - TMD (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)

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 (13.48)
* Ataxia with isolated vitamin E deficiency - TTPA (13.48)

TTR
Transthyretin (prealbumin, amyloidosis type I)



18q12.1
* Familial amyloid neuropathy - (16.4)

TUBB3
Tubulin, beta 3



16q24
* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)