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SPAG17

Synonyms
CT143, PF6, SPGF55
External resources
Summary
This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development.

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
70
Likely pathogenic
0
VUS
21,726
Likely benign
7,425
Benign
834

Patient phenotypes

Proportions of phenotypes among 62 patients carrying pathogenic or likely pathogenic variants on SPAG17 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.2%
Abnormality of the musculoskeletal system
30.6%
Abnormality of head or neck
22.6%
Abnormality of the cardiovascular system
21%
Abnormality of limbs
14.5%
Abnormality of the integument
14.5%
Growth abnormality
14.5%
Abnormality of the eye
12.9%
Abnormality of the ear
11.3%
Abnormality of the genitourinary system
11.3%
Abnormality of the immune system
11.3%
Abnormality of the digestive system
6.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the breast
3.2%
Abnormal cellular phenotype
1.6%
Abnormality of prenatal development or birth
1.6%
Abnormality of the respiratory system
1.6%
Abnormality of metabolism homeostasis
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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