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 |
|---|---|---|---|
| RS1815033569 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1815053872 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1815344712 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827248750 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827306118 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827314465 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827352302 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827372162 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827432061 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827483654 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827556397 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827563088 | Health Risk | Pathogenic | Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS1827595485 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827604419 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827788039 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827815076 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827833554 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827938831 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827984690 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1827984994 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1828019195 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1828085910 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130654806 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130654895 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130655986 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130656050 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130657545 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130658485 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130662004 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130664418 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130670737 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130670832 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130673117 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130677693 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130679030 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130679286 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130679413 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130679588 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130680464 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130680809 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130682673 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130684253 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130684472 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130690035 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130690486 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130698955 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130702553 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130703373 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130706345 | Health Risk | Pathogenic | Baller-Gerold syndrome, RECQL4-related spectrum disorders, Baller-Gerold syndrome |
| RS2130707477 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |