RECQL4 Chromosome 8
RecQ like helicase 4
Upload your DNA to see your personal genotypes for variants in RECQL4.
What This Gene Does
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
RecQ like helicases
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000160957
Associated Conditions (23)
Baller-Gerold syndrome
Inborn genetic diseases
Rothmund-Thomson syndrome
Rapadilino syndrome
Hereditary cancer-predisposing syndrome
RECQL4-related disorder
Ovarian cancer
Rothmund-Thomson syndrome type 2
Ehlers-Danlos syndrome
Gastric cancer
Ovarian serous cystadenocarcinoma
Malignant tumor of breast
Papillary renal cell carcinoma type 1
See cases
RECQL4-related spectrum disorders
B lymphoblastic leukemia lymphoma with t(12
21)(p13
q22)
TEL-AML1 (ETV6-RUNX1)
High grade surface osteosarcoma
+3 more conditions
Key Variants
RS1016687510
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1060504219
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS117670586
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome
Health Risk
RS1188265182
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1265544300
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1276726206
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1308038651
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases
Health Risk
RS1316434470
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Ovarian cancer
Health Risk
RS1319653117
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1324762406
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1328082539
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome
Health Risk
RS1358382637
Conflicting classifications of pathogenicity
Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Inborn genetic diseases
Health Risk
All Variants (507)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376045624 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS376242705 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS376364416 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, RECQL4-related disorder |
| RS386833848 | Health Risk | Conflicting classifications of pathogenicity | Rapadilino syndrome, Baller-Gerold syndrome, RECQL4-related disorder |
| RS41555416 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2 |
| RS527454830 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS531780795 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS531970883 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS535285068 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS535692036 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS539767366 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS542466006 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, RECQL4-related disorder, Inborn genetic diseases |
| RS548957135 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Rothmund-Thomson syndrome type 2 |
| RS549381989 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS550469990 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS551940973 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, RECQL4-related disorder |
| RS557284122 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS558318269 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS558451720 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS561427528 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS563222200 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS56341125 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, RECQL4-related disorder, Baller-Gerold syndrome |
| RS564143545 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS568000575 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS572936673 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome type 2, Inborn genetic diseases, Rothmund-Thomson syndrome type 2 |
| RS573164516 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS587778646 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS587778652 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome |
| RS61754061 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2 |
| RS61759892 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rapadilino syndrome |
| RS745658597 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS746303718 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS746323102 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS747019774 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS747445357 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS747857375 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS748416710 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS748604051 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS750118023 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS750261857 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS753018522 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS754735053 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS757780731 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS757933716 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS758876038 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS758888472 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS759124032 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS761231404 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Malignant tumor of breast, Ovarian cancer |
| RS762384825 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS763453097 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Ovarian cancer |