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KIF13A

Synonyms
RBKIN, bA500C11.2
External resources
Summary
This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants.

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
7
Likely pathogenic
0
VUS
14,343
Likely benign
2,507
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on KIF13A gene are displayed below. The following symptoms were found in patients with a variant in KIF13A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
71.4%
Abnormality of head or neck
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the integument
28.6%
Growth abnormality
28.6%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the eye
14.3%
Neoplasm
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
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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