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 |
|---|---|---|---|
| RS201542692 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome |
| RS201661055 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Ovarian cancer |
| RS201734382 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS201815449 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS202203322 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS2130673158 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130677764 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130697073 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130703525 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS2130707777 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130721404 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130722622 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130728507 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130728985 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2130740351 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2538063958 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2538078005 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS2538094600 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS34103564 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS34236392 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS34666647 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2 |
| RS35101495 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS35225938 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS35346077 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS35639991 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS36078464 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS368160954 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS368611522 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, RECQL4-related disorder |
| RS368671582 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome |
| RS368989729 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS369289550 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS369815468 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, RECQL4-related disorder, Rothmund-Thomson syndrome type 2 |
| RS369939552 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS369950284 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Ovarian cancer |
| RS370125881 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Rothmund-Thomson syndrome type 2 |
| RS370624395 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, RECQL4-related disorder |
| RS370660188 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2 |
| RS370919817 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS371431265 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rapadilino syndrome |
| RS371519199 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS371890521 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome |
| RS372583903 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS373187237 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS374262706 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS374743591 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS374898583 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS374965803 | Health Risk | Conflicting classifications of pathogenicity | Rothmund-Thomson syndrome, Rapadilino syndrome, Baller-Gerold syndrome |
| RS375036010 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS375297971 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS375444239 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |