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 |
|---|---|---|---|
| RS1330614261 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1331348912 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1335967859 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1345625725 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1356876749 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1360427319 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1371868658 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS137853229 | Health Risk | Pathogenic | Rothmund-Thomson syndrome, Baller-Gerold syndrome, Inborn genetic diseases |
| RS137853231 | Health Risk | Pathogenic | Rapadilino syndrome, Baller-Gerold syndrome, Rapadilino syndrome |
| RS137853232 | Health Risk | Pathogenic | Baller-Gerold syndrome, RECQL4-related disorder, Rothmund-Thomson syndrome type 2 |
| RS1389647533 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1391654044 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1391918705 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1391954605 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1401366375 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1402322681 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1406864413 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1416634281 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1426829329 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1427556033 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1457411812 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1466549456 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554896691 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554899720 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554899728 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554901674 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554902528 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554902811 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554904685 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554904702 | Health Risk | Pathogenic | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS1554904773 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564790457 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564794448 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564799470 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564801266 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564802464 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564802842 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564804342 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564804479 | Health Risk | Pathogenic | Rothmund-Thomson syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome |
| RS1564807584 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564808132 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586791537 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586792875 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586795055 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586819343 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586821509 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586824430 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586824650 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586833765 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1814928114 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |