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 |
|---|---|---|---|
| RS763846344 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, RECQL4-related disorder, Rapadilino syndrome |
| RS763965257 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome |
| RS766684128 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS768035751 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS769634470 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS770138627 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS770227800 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS770327474 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS770777125 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS771110626 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS771179943 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS773241386 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS773682937 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS774274636 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS775225569 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome |
| RS775795557 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS777542762 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS778457870 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS780176764 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Baller-Gerold syndrome, Inborn genetic diseases |
| RS780968378 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS879192998 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS909777665 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Inborn genetic diseases, Baller-Gerold syndrome |
| RS932213064 | Health Risk | Conflicting classifications of pathogenicity | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1001434106 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1050860620 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1085307090 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS1176959485 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1227874093 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1295396384 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1327061374 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554896308 | Health Risk | Likely pathogenic | Rothmund-Thomson syndrome, Rothmund-Thomson syndrome |
| RS1554897134 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1554898257 | Health Risk | Likely pathogenic | Rothmund-Thomson syndrome, Rothmund-Thomson syndrome |
| RS1564791894 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1564804563 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586790519 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Papillary renal cell carcinoma type 1, Baller-Gerold syndrome |
| RS1586791945 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586794620 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1586834813 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1815108719 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1815370807 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1815425378 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827842344 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827970204 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130651375 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2130653843 | Health Risk | Likely pathogenic | — |
| RS2130661643 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130676059 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130689994 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130702516 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |