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 |
|---|---|---|---|
| RS1016687510 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1060504219 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS117670586 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS1188265182 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1265544300 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1276726206 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1308038651 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS1316434470 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Ovarian cancer |
| RS1319653117 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1324762406 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1328082539 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1358382637 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Inborn genetic diseases |
| RS1359100897 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS1363648649 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS1365691434 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome type 2, Rothmund-Thomson syndrome type 2 |
| RS1378138545 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1431803679 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS146709578 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS1479605538 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1484366007 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1554898541 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554899274 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1554899989 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1554900626 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1586787093 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1586799490 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1586808386 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1815067197 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1815070006 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1815085488 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1815095431 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1815426930 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1827381348 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ehlers-Danlos syndrome, Baller-Gerold syndrome |
| RS1827393391 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS1827683037 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1827683274 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1827852857 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1828084287 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS190388213 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, RECQL4-related disorder, Baller-Gerold syndrome |
| RS193024188 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS199543866 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS199658221 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS199706417 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS199885535 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS200097701 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS200382712 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Inborn genetic diseases |
| RS200629599 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome |
| RS200941778 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2 |
| RS201301365 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Rothmund-Thomson syndrome type 2 |
| RS201369291 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |