FAS-related autoimmune lymphoproliferative syndrome: genes and variants
FAS-related autoimmune lymphoproliferative syndrome is linked to 1 analyzed protein (FAS). 4 DNA variants are known to cause it; 0 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 FAS-related autoimmune lymphoproliferative syndrome
FAS: Tumor necrosis factor receptor superfamily member 6
Its engagement by FAS ligand assembles a death-inducing signaling complex that triggers caspase-mediated apoptosis, particularly in activated lymphocytes. Loss-of-function variants can cause autoimmune lymphoproliferative syndrome by preventing normal contraction of immune responses.
4 disease-causing and 0 uncertain variants in FAS are linked to FAS-related autoimmune lymphoproliferative syndrome.
Known disease-causing variants in FAS-related autoimmune lymphoproliferative syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FAS D260Y | 260 | Death | Disease-causing |
| FAS A25T | 25 | Disease-causing | |
| FAS T241P | 241 | Death | Disease-causing |
| FAS G247A | 247 | Death | Disease-causing |
Same protein, different disease
- Autoimmune lymphoproliferative syndrome is also caused by FAS variants; they fall partly in the same places as the FAS-related autoimmune lymphoproliferative syndrome variants (21 disease-causing).
- SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC is also caused by FAS variants; they fall mostly in different places as the FAS-related autoimmune lymphoproliferative syndrome variants (3 disease-causing).
Diseases related to FAS-related autoimmune lymphoproliferative syndrome
- Autoimmune lymphoproliferative syndrome, also linked to FAS
Frequently asked questions
Which genes are linked to FAS-related autoimmune lymphoproliferative syndrome?
In CATVariant, FAS-related autoimmune lymphoproliferative syndrome is linked to 1 analyzed protein: FAS (Tumor necrosis factor receptor superfamily member 6).
How many genetic variants are linked to FAS-related autoimmune lymphoproliferative syndrome?
4 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in FAS-related autoimmune lymphoproliferative syndrome 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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