ODAD4 Chromosome 17
Outer dynein arm docking complex subunit 4
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What This Gene Does
This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Outer dynein arm docking complex subunits"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000204815
Associated Conditions (4)
ODAD4-related disorder
Primary ciliary dyskinesia
Primary ciliary dyskinesia 35
Heterotaxy
Key Variants
RS1555637675
Likely pathogenic
ODAD4-related disorder, ODAD4-related disorder
Health Risk
RS2544711824
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS782254368
Likely pathogenic
Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
Health Risk
RS868938106
Likely pathogenic
Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
Health Risk
RS1303840855
Pathogenic
Heterotaxy, Heterotaxy
Health Risk
RS1555637830
Pathogenic
ODAD4-related disorder, ODAD4-related disorder
Health Risk
RS781949585
Pathogenic
Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
Health Risk
RS886037888
Pathogenic
Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
Health Risk
RS886037889
Pathogenic
Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555637675 | Health Risk | Likely pathogenic | ODAD4-related disorder, ODAD4-related disorder |
| RS2544711824 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS782254368 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35 |
| RS868938106 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35 |
| RS1303840855 | Health Risk | Pathogenic | Heterotaxy, Heterotaxy |
| RS1555637830 | Health Risk | Pathogenic | ODAD4-related disorder, ODAD4-related disorder |
| RS781949585 | Health Risk | Pathogenic | Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35 |
| RS886037888 | Health Risk | Pathogenic | Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35 |
| RS886037889 | Health Risk | Pathogenic | Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35 |