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 |
|---|---|---|---|
| RS2130707964 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130712164 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130712718 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130713508 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130718160 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130718434 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2 |
| RS2130720341 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130721433 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130723893 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130727195 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130728440 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130728478 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130729321 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130735808 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130736361 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130741439 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130745290 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130745716 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130745875 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130746001 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537966952 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537967205 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537967229 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537967411 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537971729 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537972624 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537973349 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537973738 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537977434 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537978632 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537979860 | Health Risk | Pathogenic | Baller-Gerold syndrome, Ehlers-Danlos syndrome, Baller-Gerold syndrome |
| RS2537980228 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537980642 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537984222 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537984933 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537985403 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537987421 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537990692 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537991132 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537991796 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537997009 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537997706 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538003343 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538003704 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538004131 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538007835 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538008671 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538008707 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538010993 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538014296 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |