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CATSPER1

Synonyms
CATSPER, SPGF7
External resources
Summary
Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region.

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
68
Likely pathogenic
48
VUS
3,831
Likely benign
2,849
Benign
1,011

Patient phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on CATSPER1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
26.7%
Abnormality of the nervous system
24.4%
Abnormality of the eye
20%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
11.1%
Abnormality of the digestive system
8.9%
Abnormality of head or neck
6.7%
Abnormality of the immune system
6.7%
Abnormality of the musculoskeletal system
6.7%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of limbs
4.4%
Abnormality of the endocrine system
4.4%
Growth abnormality
4.4%
Abnormal cellular phenotype
2.2%
Abnormality of prenatal development or birth
2.2%
Abnormality of the integument
2.2%
Neoplasm
2.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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