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PACS1

Synonyms
MRD17, SHMS
External resources
Summary
This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance.

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
22
Likely pathogenic
0
VUS
1,737
Likely benign
2,558
Benign
3,959

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on PACS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
68.8%
Abnormality of head or neck
43.8%
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
25%
Abnormality of the genitourinary system
18.8%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the integument
12.5%
Abnormality of the digestive system
6.3%
Abnormality of the respiratory system
6.3%
Growth abnormality
6.3%
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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