TTN
Musculoskeletal System · Skeletal Muscle Sarcomere Structure
Why do TTN findings require careful interpretation?
TTN encodes titin, a very large protein used in the contractile structures of heart and skeletal muscle. The gene has many variants and tissue-specific forms, so the location and type of a change matter greatly.
- Common Gene Name
- titin
- NCBI Gene ID
- 7273
- Chromosome
- 2
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (16 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| arrhythmogenic right ventricular cardiomyopathy | ClinGen gene-disease validity | Disputed | Autosomal dominant | View source 2025-10-28 |
| myopathy, myofibrillar, 9, with early respiratory failure | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-06-23 |
| hypertrophic cardiomyopathy | ClinGen gene-disease validity | Limited | Autosomal dominant | View source 2025-10-28 |
| tibial muscular dystrophy | ClinGen gene-disease validity | Moderate | Autosomal dominant | View source 2025-06-23 |
| dilated cardiomyopathy 1G | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2026-03-04 |
| TTN-related myopathy, dominant-negative TTNsv | ClinGen gene-disease validity | Moderate | Autosomal dominant | View source 2026-02-23 |
| TTN-related myopathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2021-08-23 |
| Centronuclear myopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Myofibrillar myopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Limb-girdle muscular dystrophy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Early-onset myopathy with fatal cardiomyopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Hereditary myopathy with early respiratory failure | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Nonsyndromic hypertrophic cardiomyopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Nonsyndromic dilated cardiomyopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-01 | |
| Dilated cardiomyopathy | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2026-06-17 |
| Dilated cardiomyopathy | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2026-06-17 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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