Home > Gene Browser > VPS41

VPS41

Synonyms
HVPS41, HVSP41, SCAR29, hVps41p
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 ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known.

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
31
Likely pathogenic
0
VUS
3,778
Likely benign
7,059
Benign
407

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on VPS41 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.1%
Abnormality of the digestive system
25.8%
Abnormality of the musculoskeletal system
25.8%
Abnormality of the cardiovascular system
19.4%
Abnormality of the endocrine system
19.4%
Neoplasm
19.4%
Abnormality of head or neck
16.1%
Abnormality of the ear
16.1%
Abnormality of the eye
16.1%
Abnormality of the genitourinary system
9.7%
Growth abnormality
9.7%
Abnormality of the immune system
6.5%
Abnormality of the integument
6.5%
Abnormality of the respiratory system
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of limbs
3.2%
Abnormality of prenatal development or birth
3.2%
Constitutional symptom
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes