CEP152 Chromosome 15
Centrosomal protein 152
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What This Gene Does
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Associated Conditions (8)
Microcephaly 9
primary
autosomal recessive
Seckel syndrome 5
CEP152-related disorder
Gastric cancer
Inborn genetic diseases
Seckel syndrome
Key Variants
RS1048042
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS111917814
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS117557829
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS138151279
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS1382711328
Conflicting classifications of pathogenicity
Health Risk
RS141463032
Conflicting classifications of pathogenicity
Seckel syndrome 5, Microcephaly 9, primary
Health Risk
RS145138194
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS146482586
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149176738
Conflicting classifications of pathogenicity
Seckel syndrome 5, Microcephaly 9, primary
Health Risk
RS149478199
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS181295720
Conflicting classifications of pathogenicity
Microcephaly 9, primary, autosomal recessive
Health Risk
RS182367234
Conflicting classifications of pathogenicity
Seckel syndrome 5, Microcephaly 9, primary
Health Risk
All Variants (182)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754565020 | Health Risk | Pathogenic | Seckel syndrome 5, Microcephaly 9, primary |
| RS757108755 | Health Risk | Pathogenic | — |
| RS759917227 | Health Risk | Pathogenic | — |
| RS762950259 | Health Risk | Pathogenic | — |
| RS765317927 | Health Risk | Pathogenic | — |
| RS765626502 | Health Risk | Pathogenic | — |
| RS768917744 | Health Risk | Pathogenic | — |
| RS770059947 | Health Risk | Pathogenic | — |
| RS776652341 | Health Risk | Pathogenic | — |
| RS776871724 | Health Risk | Pathogenic | — |
| RS776924888 | Health Risk | Pathogenic | — |
| RS778933589 | Health Risk | Pathogenic | — |
| RS869312853 | Health Risk | Pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS886039327 | Health Risk | Pathogenic | — |
| RS946314518 | Health Risk | Pathogenic | — |
| RS966888627 | Health Risk | Pathogenic | Seckel syndrome 5, Seckel syndrome 5 |
| RS1208144689 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS1263911484 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS1342429887 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome, Microcephaly 9, primary |
| RS1555418825 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS182018947 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS2504602075 | Health Risk | Pathogenic/Likely pathogenic | CEP152-related disorder, Microcephaly 9, primary |
| RS267606717 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS267606718 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS376895274 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS587783423 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS754267846 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS763537210 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome 5, Microcephaly 9, primary |
| RS764602105 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome 5, Microcephaly 9, primary |
| RS776054057 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 9, primary, autosomal recessive |
| RS957548078 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome 5, Microcephaly 9, primary |
| RS995036419 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome 5, Microcephaly 9, primary |