Rothmund-Thomson syndrome: genes and variants
Rothmund-Thomson syndrome is linked to 1 analyzed protein (RECQL4). 2 DNA variants are known to cause it; 160 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Rothmund-Thomson syndrome type 2
Genes linked to Rothmund-Thomson syndrome
RECQL4: ATP-dependent DNA helicase Q4
It participates in DNA replication, repair, and maintenance of genome stability, particularly during replication initiation and processing of damaged DNA. Biallelic pathogenic variants cause Rothmund-Thomson, Baller-Gerold, or RAPADILINO syndromes, with variable skeletal abnormalities and cancer predisposition.
2 disease-causing and 160 uncertain variants in RECQL4 are linked to Rothmund-Thomson syndrome.
Known disease-causing variants in Rothmund-Thomson syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RECQL4 R1021W | 1021 | Disease-causing (★★) | |
| RECQL4 G231S | 231 | Disease-causing |
Same protein, different disease
- Baller-Gerold syndrome is also caused by RECQL4 variants; they fall mostly in different places as the Rothmund-Thomson syndrome variants (6 disease-causing).
Diseases related to Rothmund-Thomson syndrome
- Ovarian cancer, also linked to RECQL4
- Baller-Gerold syndrome, also linked to RECQL4
Frequently asked questions
Which genes are linked to Rothmund-Thomson syndrome?
In CATVariant, Rothmund-Thomson syndrome is linked to 1 analyzed protein: RECQL4 (ATP-dependent DNA helicase Q4).
How many genetic variants are linked to Rothmund-Thomson syndrome?
183 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 160 are of uncertain significance or have conflicting reports.
Which uncertain variants in Rothmund-Thomson 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center