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PIGK

Synonyms
GPI8, NEDHCAS
External resources
Summary
This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins.

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
9
Likely pathogenic
0
VUS
1,542
Likely benign
12,483
Benign
46

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on PIGK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the nervous system
33.3%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of head or neck
11.1%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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