MCIDAS Chromosome 5
Multiciliate differentiation and DNA synthesis associated cell cycle protein
Upload your DNA to see your personal genotypes for variants in MCIDAS.
What This Gene Does
This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
Associated Conditions (7)
Primary ciliary dyskinesia
Inborn genetic diseases
Ciliary dyskinesia
primary
42
MCIDAS-related disorder
Primary ciliary dyskinesia 3
Key Variants
RS113717721
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS181955833
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS185737637
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, MCIDAS-related disorder, Ciliary dyskinesia
Health Risk
RS186341559
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS199825346
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS2478513634
Likely pathogenic
Ciliary dyskinesia, primary, 42
Health Risk
RS797045152
Likely pathogenic
Ciliary dyskinesia, primary, 42
Health Risk
RS939457499
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1478876274
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1561117442
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1580402818
Pathogenic
Ciliary dyskinesia, primary, 42
Health Risk
RS1745348853
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113717721 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS181955833 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS185737637 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, MCIDAS-related disorder, Ciliary dyskinesia |
| RS186341559 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS199825346 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS2478513634 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 42 |
| RS797045152 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 42 |
| RS939457499 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1478876274 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1561117442 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580402818 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 42 |
| RS1745348853 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1745349301 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2111702150 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2478513916 | Health Risk | Pathogenic | Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2478527360 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777031813 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 42 |
| RS797045151 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 42 |
| RS1291689114 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |