RTEL1
Universal Cellular Machinery · DNA Replication & Telomere Maintenance
How does RTEL1 help protect the ends of chromosomes?
RTEL1 makes a helicase involved in maintaining and protecting telomeres. It helps manage DNA structures during replication so chromosome ends remain stable.
- Common Gene Name
- regulator of telomere elongation helicase 1
- NCBI Gene ID
- 51750
- Chromosome
- 20
Clinical Evidence Status
Established 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 (1 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinGen gene-disease validity | Definitive | Semidominant | View source 2025-12-16 |
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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