Cockayne syndrome: genes and variants
Cockayne syndrome is linked to 1 analyzed protein (ERCC4). 2 DNA variants are known to cause it; 317 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 Cockayne syndrome
ERCC4: DNA repair endonuclease XPF
Together with ERCC1, it makes structure-specific DNA incisions required for nucleotide-excision repair and interstrand-crosslink repair. Biallelic pathogenic variants can cause xeroderma pigmentosum, Fanconi anemia, or severe progeroid DNA-repair disease.
2 disease-causing and 317 uncertain variants in ERCC4 are linked to Cockayne syndrome.
Known disease-causing variants in Cockayne syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERCC4 R689S | 689 | ERCC4 | Disease-causing (★★) |
| ERCC4 R589W | 589 | Disease-causing (★★) |
Diseases related to Cockayne syndrome
- Ovarian cancer, also linked to ERCC4
- Acute myeloid leukemia, also linked to ERCC4
- Fanconi anemia, also linked to ERCC4
- Xeroderma pigmentosum, also linked to ERCC4
- Fanconi anemia complementation group Q, also linked to ERCC4
- Xeroderma pigmentosum, group F, also linked to ERCC4
- XFE progeroid syndrome, also linked to ERCC4
Frequently asked questions
Which genes are linked to Cockayne syndrome?
In CATVariant, Cockayne syndrome is linked to 1 analyzed protein: ERCC4 (DNA repair endonuclease XPF).
How many genetic variants are linked to Cockayne syndrome?
340 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 317 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cockayne 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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