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 (12.31)
|
TAZ
tafazzin
| Xq28 | * Cardiomyopathy, X-linked dilated - CMD3A (10.54, 10.69)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.54, 10.69)
* Endocardial fibroelastosis-2 - G4.5 (10.54, 10.69)
* Barth syndrome - BTHS (10.54, 10.69)
|
TBP
TATA box binding protein
| 6q27 | * Spinocerebellar ataxia 17 - SCA17 (13.15)
|
TCAP
telethonin
| 17q12 | * Dilated cardiomyopathy, 1N - (1.25, 2.26, 10.40)
* Congenital musuclar dystrophy with telethonin defect - (1.25, 2.26, 10.40)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.25, 2.26, 10.40)
|
TDP1
Tyrosyl-DNA phosphodiesterase 1
| 14q31-q32 | * spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.49)
|
TGFB3
transforming growth factor, beta 3
| 14q24.3 | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.72)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.72)
|
TK2
Thymidine kinase 2, mitochondrial
| 16q22-q23 | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.21)
|
TMEM43
transmembrane protein 43
| 3p25.1 | * luma related muscular dystrophy - (1.8, 10.76)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.76)
|
TMPO
lamina-associated polypeptide 2
| 12q22 | * Cardiomyopathy, dilated, 1T - CMT1T (10.46)
|
TNNC1
slow troponin C
| 3p21.3-p14.3 | * Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.50)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.50)
|
TNNI2
troponin I, type 2
| 11p15.5 | * Arthrogryposis, distal, type 2B - DA2B (16.10)
|
TNNI3
troponin I, cardiac
| 19q13.4 | * Cardiomyopathy, familial restrictive - RCM (10.6, 10.61, 10.66)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.61, 10.66)
|
TNNT1
slow troponin T
| 19q13.4 | * Nemaline myopathy 5 - NEM5 (3.6)
|
TNNT2
troponin T2, cardiac
| 1q32 | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.30)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.30)
|
TNNT3
troponin T3, skeletal
| 11p15.5 | * Arthrogryposis, distal, type 2B - DA2B (16.11)
|
TOR1A
torsin A
| 9q34 | * Torsion dystonia, early onset - EOTD (16.1)
|
TPM1
tropomyosin 1 (alpha)
| 15q22 | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.49)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.49)
|
TPM2
tropomyosin 2 (beta)
| 9p13 | * Arthrogryposis, distal, type 1A - DA1A (3.4, 3.5, 3.27, 16.8, 16.13)
* arthrogryposis, distal, type 2B - DA2B (3.4, 3.5, 3.27, 16.8, 16.13)
* Nemaline myopathy 4 - NEM4 (3.4, 3.5, 3.27, 16.8, 16.13)
* Cap myopathy, TPM2-related, included - (3.4, 3.5, 3.27, 16.8, 16.13)
|
TPM3
tropomyosin 3
| 1q21.2 | * Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.11, 3.28)
|
TRIM32
Tripartite motif-containing 32
| 9q33.2 | * Sarcotubular myopathy - (1.26, 3.34)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.26, 3.34)
|
TRPV4
transient receptor potential cation channel, subfamily V, member 4
| 12q23-q24 | * Scapuloperoneal spinal muscular atrophy - SPSMA (12.19, 12.20, 14.38)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.19, 12.20, 14.38)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.19, 12.20, 14.38)
|
TTBK2
tau tubulin kinase 2
| 15q15.2 | * Spinocerebellar ataxia 11 - SCA11 (13.10)
|
TTN
titin
| 2q31 | * Congenital myopathy with fatal cardiomyopathy - (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Tibial muscular dystrophy, tardive - TMD (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Hereditry myopathy with early respiratory failure - HMERF (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Cardiomyopathy, dilated, 1G - CMD1G (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
|
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 (13.38)
* Ataxia with isolated vitamin E deficiency - TTPA (13.38)
|
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)
|