CEP55 Chromosome 10
Centrosomal protein 55
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What This Gene Does
Enables identical protein binding activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming body and centrosome. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
CEP55-related disorder
Inborn genetic diseases
Abnormality of prenatal development or birth
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Key Variants
RS141349756
Conflicting classifications of pathogenicity
CEP55-related disorder, CEP55-related disorder
Health Risk
RS551482419
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751413806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2134490704
Likely pathogenic
Abnormality of prenatal development or birth, Abnormality of prenatal development or birth
Health Risk
RS2493944670
Likely pathogenic
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Health Risk
RS1002854345
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1169095680
Pathogenic
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Health Risk
RS1393566431
Pathogenic
Health Risk
RS141458677
Pathogenic
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Inborn genetic diseases, CEP55-related disorder
Health Risk
RS201430235
Pathogenic
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Health Risk
RS2134489809
Pathogenic
Health Risk
RS572584581
Pathogenic
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141349756 | Health Risk | Conflicting classifications of pathogenicity | CEP55-related disorder, CEP55-related disorder |
| RS551482419 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751413806 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2134490704 | Health Risk | Likely pathogenic | Abnormality of prenatal development or birth, Abnormality of prenatal development or birth |
| RS2493944670 | Health Risk | Likely pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS1002854345 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1169095680 | Health Risk | Pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS1393566431 | Health Risk | Pathogenic | — |
| RS141458677 | Health Risk | Pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Inborn genetic diseases, CEP55-related disorder |
| RS201430235 | Health Risk | Pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS2134489809 | Health Risk | Pathogenic | — |
| RS572584581 | Health Risk | Pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS770774477 | Health Risk | Pathogenic | — |
| RS1297300713 | Health Risk | Pathogenic/Likely pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, CEP55-related disorder, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS146596670 | Health Risk | Pathogenic/Likely pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |