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DNAI2

Synonyms
CILD9, DIC2
External resources
Summary
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

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
19
Likely pathogenic
0
VUS
5,212
Likely benign
4,426
Benign
130

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on DNAI2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.4%
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
26.3%
Abnormality of limbs
15.8%
Growth abnormality
15.8%
Abnormality of head or neck
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the endocrine system
10.5%
Abnormality of the respiratory system
10.5%
Abnormality of prenatal development or birth
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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