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 |
|---|---|---|---|
| RS751422368 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS753620447 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS754986197 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS757032044 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS757872564 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS761801479 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS762028333 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS762591075 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS766643335 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS770709355 | Health Risk | Pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS770874039 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS771839491 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS773325186 | Health Risk | Pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome |
| RS773765879 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS775439596 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS775600052 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS776743331 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS778141083 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS779196557 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS780542343 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS786200887 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2 |
| RS794726912 | Health Risk | Pathogenic | — |
| RS878854644 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS878854645 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS886041662 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS886043102 | Health Risk | Pathogenic | — |
| RS909588820 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS934534826 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS949806741 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS994355873 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS995015088 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1024114400 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1060501353 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS1064796290 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1203766600 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS1263096303 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS137853230 | Health Risk | Pathogenic/Likely pathogenic | Rapadilino syndrome, Rapadilino syndrome |
| RS1406641581 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome |
| RS1483085748 | Health Risk | Pathogenic/Likely pathogenic | Malignant fibrous histiocytoma, Baller-Gerold syndrome, Malignant fibrous histiocytoma |
| RS1554903709 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS1586795973 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586821679 | Health Risk | Pathogenic/Likely pathogenic | Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome |
| RS1586824938 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS2538113308 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Congenital heart disease, Baller-Gerold syndrome |
| RS34134064 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS368081792 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS372380880 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS373130543 | Health Risk | Pathogenic/Likely pathogenic | Baller-Gerold syndrome, RECQL4-related spectrum disorders, Baller-Gerold syndrome |
| RS386833844 | Health Risk | Pathogenic/Likely pathogenic | Rapadilino syndrome, Baller-Gerold syndrome, Rapadilino syndrome |
| RS386833852 | Health Risk | Pathogenic/Likely pathogenic | Rapadilino syndrome, Baller-Gerold syndrome, Congenital heart disease |