Baller-Gerold syndrome: genes and variants
Baller-Gerold syndrome is linked to 1 analyzed protein (RECQL4). 6 DNA variants are known to cause it; 2,185 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 Baller-Gerold 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.
6 disease-causing and 2,185 uncertain variants in RECQL4 are linked to Baller-Gerold syndrome.
Known disease-causing variants in Baller-Gerold syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RECQL4 P466L | 466 | Disease-causing (★★) | |
| RECQL4 R1021W | 1021 | Disease-causing (★★) | |
| RECQL4 G231S | 231 | Disease-causing (★) | |
| RECQL4 S1079I | 1079 | Disease-causing (★) | |
| RECQL4 A587T | 587 | Helicase ATP-binding | Disease-causing (★) |
| RECQL4 L638P | 638 | Helicase ATP-binding | Disease-causing (★) |
Diseases related to Baller-Gerold syndrome
- Ovarian cancer, also linked to RECQL4
- Rothmund-Thomson syndrome, also linked to RECQL4
Frequently asked questions
Which genes are linked to Baller-Gerold syndrome?
In CATVariant, Baller-Gerold syndrome is linked to 1 analyzed protein: RECQL4 (ATP-dependent DNA helicase Q4).
How many genetic variants are linked to Baller-Gerold syndrome?
2,264 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2,185 are of uncertain significance or have conflicting reports.
Which uncertain variants in Baller-Gerold 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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