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 |
|---|---|---|---|
| RS2130711906 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2130716088 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2130745099 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537965574 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537974946 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537981842 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537989491 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538016493 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538035560 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538046041 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538052211 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538077097 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538114200 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS368585080 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS376874393 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS386833846 | Health Risk | Likely pathogenic | Rapadilino syndrome, Rapadilino syndrome |
| RS386833853 | Health Risk | Likely pathogenic | Rapadilino syndrome, Rapadilino syndrome |
| RS386833854 | Health Risk | Likely pathogenic | Rapadilino syndrome, Rapadilino syndrome |
| RS569948031 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS751503394 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS752301125 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS752895450 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, RECQL4-related disorder, Baller-Gerold syndrome |
| RS753593981 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS768685242 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS768749064 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS768782202 | Health Risk | Likely pathogenic | Rapadilino syndrome, Rapadilino syndrome |
| RS772896860 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS781636798 | Health Risk | Likely pathogenic | RECQL4-related disorder, RECQL4-related disorder |
| RS786200889 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome |
| RS977450143 | Health Risk | Likely pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1035057882 | Health Risk | Pathogenic | Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2 |
| RS1054186954 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1060501370 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1060501383 | Health Risk | Pathogenic | RECQL4-related disorder, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS1060501384 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1165502618 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS117642173 | Health Risk | Pathogenic | Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2 |
| RS1206089987 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1208137808 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1215700016 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, RECQL4-related disorder |
| RS1220902289 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1238821346 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1254532871 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1257273728 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1259761865 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1292831710 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1302751005 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1317950691 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1318489395 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS1319295020 | Health Risk | Pathogenic | Baller-Gerold syndrome, Baller-Gerold syndrome |