DNAAF11 Chromosome 8
Dynein axonemal assembly factor 11
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What This Gene Does
The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
8q24.22
Ensembl
ENSG00000129295
Associated Conditions (8)
Primary ciliary dyskinesia 19
Primary ciliary dyskinesia
DNAAF11-related disorder
Respiratory ciliopathies including non-CF bronchiectasis
Multiple sclerosis
susceptibility to
Kartagener syndrome
Heterotaxy
Key Variants
RS115536785
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, DNAAF11-related disorder
Health Risk
RS116329113
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
Health Risk
RS139008774
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 19
Health Risk
RS139131485
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Multiple sclerosis, susceptibility to
Health Risk
RS141945265
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
Health Risk
RS143717300
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
RS144068846
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
RS146067670
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
RS146175329
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, DNAAF11-related disorder, Primary ciliary dyskinesia
Health Risk
RS147849568
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
RS149631064
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
RS149894438
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115536785 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, DNAAF11-related disorder |
| RS116329113 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS139008774 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 19 |
| RS139131485 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Multiple sclerosis, susceptibility to |
| RS141945265 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19, Primary ciliary dyskinesia |
| RS143717300 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS144068846 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS146067670 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS146175329 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, DNAAF11-related disorder, Primary ciliary dyskinesia |
| RS147849568 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS149631064 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS149894438 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS200580615 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS377278570 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, DNAAF11-related disorder |
| RS762081490 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS772453135 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS780037666 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS1821460043 | Health Risk | Likely pathogenic | DNAAF11-related disorder, DNAAF11-related disorder |
| RS2537924600 | Health Risk | Likely pathogenic | — |
| RS2538048423 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS756153007 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS1170838072 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS1218098769 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS1391729028 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS150975285 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 19, Primary ciliary dyskinesia |
| RS1586586381 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS1815572053 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS1815582943 | Health Risk | Pathogenic | — |
| RS2130325496 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS2130460427 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS2131015097 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS2537813639 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS2538396993 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS397515424 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS397515425 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS397515461 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS750603177 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS756029160 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS760123202 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Kartagener syndrome, Primary ciliary dyskinesia |
| RS763900107 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS767624733 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS771548650 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777779770 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS979934112 | Health Risk | Pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |
| RS1821475039 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 19, Primary ciliary dyskinesia |
| RS200321595 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 19, Heterotaxy, Primary ciliary dyskinesia |
| RS769220870 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 19, Primary ciliary dyskinesia, Primary ciliary dyskinesia 19 |