STIL Chromosome 1
STIL centriolar assembly protein
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What This Gene Does
This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Microcephaly 7
primary
autosomal recessive
STIL-related disorder
Inborn genetic diseases
Abnormal brain morphology
Neutrophil inclusion bodies
Myoepithelial tumor
Key Variants
RS1045195933
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS113337758
Conflicting classifications of pathogenicity
Health Risk
RS138834578
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS141678367
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS144746030
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS148193936
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS149185431
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS149296029
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS149697952
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS188900275
Conflicting classifications of pathogenicity
Health Risk
RS199558457
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
RS199634446
Conflicting classifications of pathogenicity
Microcephaly 7, primary, autosomal recessive
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045195933 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS113337758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138834578 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS141678367 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS144746030 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS148193936 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS149185431 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS149296029 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS149697952 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS188900275 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199558457 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS199634446 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS200532713 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200995168 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS367887740 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368201717 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372680224 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS372838651 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS3766317 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS749339741 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS75426387 | Health Risk | Conflicting classifications of pathogenicity | STIL-related disorder, STIL-related disorder |
| RS763127279 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS770213403 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS774035449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778016364 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS778747630 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS888258532 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 7, primary, autosomal recessive |
| RS1570108068 | Health Risk | Likely pathogenic | — |
| RS1644859651 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2148845188 | Health Risk | Likely pathogenic | — |
| RS2149046665 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2149199098 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2521954674 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2523341350 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2524859378 | Health Risk | Likely pathogenic | — |
| RS369348360 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS587784452 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS755837661 | Health Risk | Likely pathogenic | STIL-related disorder, STIL-related disorder |
| RS757631449 | Health Risk | Likely pathogenic | Neutrophil inclusion bodies, Neutrophil inclusion bodies |
| RS863225464 | Health Risk | Likely pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS1064796510 | Health Risk | Pathogenic | — |
| RS121918609 | Health Risk | Pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS1437830511 | Health Risk | Pathogenic | — |
| RS1553180057 | Health Risk | Pathogenic | — |
| RS199422206 | Health Risk | Pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS199422207 | Health Risk | Pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS2524013631 | Health Risk | Pathogenic | — |
| RS2524016367 | Health Risk | Pathogenic | Myoepithelial tumor, Myoepithelial tumor |
| RS398122976 | Health Risk | Pathogenic | Microcephaly 7, primary, autosomal recessive |
| RS767408811 | Health Risk | Pathogenic | — |