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VPS13D

Synonyms
SCAR4
External resources
Summary
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms.

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
8
Likely pathogenic
0
VUS
12,783
Likely benign
5,036
Benign
439

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on VPS13D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
62.5%
Abnormality of the nervous system
62.5%
Abnormality of the musculoskeletal system
37.5%
Growth abnormality
37.5%
Abnormality of limbs
25%
Abnormality of prenatal development or birth
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the endocrine system
25%
Abnormality of the eye
25%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the respiratory system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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