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DNAAF3

Synonyms
C19orf51, CILD2, DAB1, PCD, PF22
External resources
Summary
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
21
Likely pathogenic
2
VUS
1,356
Likely benign
588
Benign
38

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on DNAAF3 gene are displayed below. The following symptoms were found in patients with a variant in DNAAF3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the ear
31.6%
Abnormality of the eye
21.1%
Abnormality of head or neck
15.8%
Abnormality of the genitourinary system
15.8%
Abnormality of the musculoskeletal system
15.8%
Abnormality of metabolism homeostasis
10.5%
Abnormality of the integument
10.5%
Abnormality of the cardiovascular system
5.3%
Abnormality of the immune system
5.3%
Constitutional symptom
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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