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VPS11

Synonyms
END1, HLD12, HLD12; DYT32, PEP5, RNF108, hVPS11
External resources
Summary
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants.

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
26
Likely pathogenic
10
VUS
17,367
Likely benign
1,377
Benign
30

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on VPS11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.2%
Abnormality of the musculoskeletal system
31%
Abnormality of head or neck
20.7%
Abnormality of limbs
20.7%
Abnormality of the cardiovascular system
10.3%
Abnormality of the eye
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the immune system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of prenatal development or birth
3.4%
Abnormality of the digestive system
3.4%
Abnormality of the ear
3.4%
Abnormality of the endocrine system
3.4%
Constitutional symptom
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
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%

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