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KIF18A

Synonyms
MS-KIF18A, PPP1R99
External resources
Summary
KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005

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
12
Likely pathogenic
0
VUS
6,314
Likely benign
535
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on KIF18A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
54.5%
Abnormality of the nervous system
54.5%
Abnormality of head or neck
36.4%
Abnormality of the eye
36.4%
Abnormal cellular phenotype
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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