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DNAAF11

Synonyms
CILD19, LRRC6, LRTP, TSLRP, tilB
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
943
Likely benign
1,505
Benign
490

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on DNAAF11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of head or neck
33.3%
Abnormality of the musculoskeletal system
33.3%
Growth abnormality
33.3%
Abnormality of the cardiovascular system
26.7%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the eye
13.3%
Abnormality of the respiratory system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the breast
6.7%
Abnormality of the integument
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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