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VPS13A

Synonyms
CHAC, CHOREIN
External resources
Summary
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. 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
27
Likely pathogenic
0
VUS
16,267
Likely benign
7,702
Benign
17

Patient phenotypes

Proportions of phenotypes among 24 patients carring pathogenic or likely pathogenic variants on VPS13A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
45.8%
Growth abnormality
29.2%
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of limbs
4.2%
Abnormality of the immune system
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
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 genitourinary system
0%
Abnormality of the integument
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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