ESCO2 Chromosome 8
Establishment of sister chromatid cohesion N-acetyltransferase 2
Upload your DNA to see your personal genotypes for variants in ESCO2.
What This Gene Does
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lysine acetyltransferases
Locus Type
gene with protein product
Location
8p21.1
Ensembl
ENSG00000171320
Associated Conditions (5)
Hereditary breast ovarian cancer syndrome
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
ESCO2-related disorder
Inborn genetic diseases
Key Variants
RS115144373
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Roberts-SC phocomelia syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1421884058
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS143530690
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, ESCO2-related disorder
Health Risk
RS143539004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, ESCO2-related disorder
Health Risk
RS145734811
Conflicting classifications of pathogenicity
ESCO2-related disorder, Inborn genetic diseases, Roberts-SC phocomelia syndrome
Health Risk
RS146312522
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS149494070
Conflicting classifications of pathogenicity
ESCO2-related disorder, Roberts-SC phocomelia syndrome, ESCO2-related disorder
Health Risk
RS1804814100
Conflicting classifications of pathogenicity
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
Health Risk
RS184200865
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS199653554
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases
Health Risk
RS369338792
Conflicting classifications of pathogenicity
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
Health Risk
RS557813179
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115144373 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Roberts-SC phocomelia syndrome, Hereditary breast ovarian cancer syndrome |
| RS1421884058 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS143530690 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, ESCO2-related disorder |
| RS143539004 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Roberts-SC phocomelia syndrome, ESCO2-related disorder |
| RS145734811 | Health Risk | Conflicting classifications of pathogenicity | ESCO2-related disorder, Inborn genetic diseases, Roberts-SC phocomelia syndrome |
| RS146312522 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS149494070 | Health Risk | Conflicting classifications of pathogenicity | ESCO2-related disorder, Roberts-SC phocomelia syndrome, ESCO2-related disorder |
| RS1804814100 | Health Risk | Conflicting classifications of pathogenicity | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS184200865 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS199653554 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases |
| RS369338792 | Health Risk | Conflicting classifications of pathogenicity | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS557813179 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases |
| RS587783623 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS587783624 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS750159862 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ESCO2-related disorder, Roberts-SC phocomelia syndrome |
| RS768359741 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770166633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS886044291 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886134261 | Health Risk | Conflicting classifications of pathogenicity | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS950912243 | Health Risk | Conflicting classifications of pathogenicity | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS1003451291 | Health Risk | Likely pathogenic | — |
| RS1185123354 | Health Risk | Likely pathogenic | — |
| RS1207909659 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS1208433027 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS1225195349 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS1276808934 | Health Risk | Likely pathogenic | — |
| RS1378420951 | Health Risk | Likely pathogenic | — |
| RS1439380661 | Health Risk | Likely pathogenic | — |
| RS1804892169 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS2128955140 | Health Risk | Likely pathogenic | — |
| RS2128955152 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS2128956046 | Health Risk | Likely pathogenic | — |
| RS2486626101 | Health Risk | Likely pathogenic | — |
| RS2486626601 | Health Risk | Likely pathogenic | — |
| RS2486629474 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2486654067 | Health Risk | Likely pathogenic | — |
| RS2486656881 | Health Risk | Likely pathogenic | — |
| RS2486665444 | Health Risk | Likely pathogenic | — |
| RS80359865 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359868 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS959080745 | Health Risk | Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS1245163004 | Health Risk | Pathogenic | — |
| RS1277093532 | Health Risk | Pathogenic | — |
| RS1310380278 | Health Risk | Pathogenic | — |
| RS1334506794 | Health Risk | Pathogenic | — |
| RS1467469512 | Health Risk | Pathogenic | — |
| RS1473541902 | Health Risk | Pathogenic | — |
| RS1554554098 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS1554555716 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS1554556417 | Health Risk | Pathogenic | — |