SUZ12 Chromosome 17
SUZ12 polycomb repressive complex 2 subunit
Upload your DNA to see your personal genotypes for variants in SUZ12.
What This Gene Does
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Polycomb repressive complex 2"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000178691
Associated Conditions (5)
Inborn genetic diseases
Imagawa-Matsumoto syndrome
Non-immune hydrops fetalis
Acute megakaryoblastic leukemia in down syndrome
SUZ12-related disorder
Key Variants
RS1905998196
Conflicting classifications of pathogenicity
Inborn genetic diseases, Imagawa-Matsumoto syndrome, Inborn genetic diseases
Health Risk
RS748955039
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2142213971
Likely pathogenic
Health Risk
RS2142215091
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS2142215876
Likely pathogenic
Imagawa-Matsumoto syndrome, Non-immune hydrops fetalis, Imagawa-Matsumoto syndrome
Health Risk
RS2142222377
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS2508661900
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS2508662320
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS2508677290
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS2508684640
Likely pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
RS990621046
Likely pathogenic
Health Risk
RS1131692177
Pathogenic
Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1905998196 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Imagawa-Matsumoto syndrome, Inborn genetic diseases |
| RS748955039 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2142213971 | Health Risk | Likely pathogenic | — |
| RS2142215091 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2142215876 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Non-immune hydrops fetalis, Imagawa-Matsumoto syndrome |
| RS2142222377 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2508661900 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2508662320 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2508677290 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2508684640 | Health Risk | Likely pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS990621046 | Health Risk | Likely pathogenic | — |
| RS1131692177 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS1242271427 | Health Risk | Pathogenic | — |
| RS1567840389 | Health Risk | Pathogenic | — |
| RS1598143986 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS1598174225 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS1598192095 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS1909882416 | Health Risk | Pathogenic | — |
| RS1909936773 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2142117372 | Health Risk | Pathogenic | — |
| RS2142117453 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2142222219 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS2508535286 | Health Risk | Pathogenic | — |
| RS771704089 | Health Risk | Pathogenic | Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome |
| RS1909527513 | Health Risk | Pathogenic/Likely pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS372162318 | Health Risk | Pathogenic/Likely pathogenic | SUZ12-related disorder, Inborn genetic diseases, SUZ12-related disorder |
| RS750383066 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Imagawa-Matsumoto syndrome, Inborn genetic diseases |