Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8: genes and variants
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 is linked to 1 analyzed protein (POT1). 1 DNA variants are known to cause it; 15 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
POT1: Protection of telomeres protein 1
It binds the single-stranded ends of telomeres and helps control telomerase access while preventing chromosome ends from being mistaken for DNA breaks. Germline loss-of-function variants predispose to several cancers, including melanoma, glioma, and chronic lymphocytic leukemia, and can produce unusually long telomeres.
1 disease-causing and 15 uncertain variants in POT1 are linked to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8.
Known disease-causing variants in Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POT1 L259S | 259 | Disease-causing |
Same protein, different disease
- Tumor predisposition syndrome 3 is also caused by POT1 variants; they fall mostly in different places as the Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 variants (8 disease-causing).
Diseases related to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
- Dyskeratosis congenita, also linked to POT1
- Familial melanoma, also linked to POT1
- Tumor predisposition syndrome 3, also linked to POT1
- Long telomere syndrome, also linked to POT1
Frequently asked questions
Which genes are linked to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8?
In CATVariant, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 is linked to 1 analyzed protein: POT1 (Protection of telomeres protein 1).
How many genetic variants are linked to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8?
16 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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