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PIGG

Synonyms
GPI7, LAS21, MRT53, PRO4405, RLGS1930
External resources
Summary
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. 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
29
Likely pathogenic
0
VUS
7,566
Likely benign
4,352
Benign
183

Patient phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on PIGG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.6%
Abnormality of the musculoskeletal system
32.1%
Abnormality of head or neck
21.4%
Abnormality of the cardiovascular system
17.9%
Abnormality of the integument
17.9%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the eye
14.3%
Growth abnormality
14.3%
Abnormality of the genitourinary system
10.7%
Abnormality of the immune system
10.7%
Abnormality of the digestive system
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the voice
3.6%
Neoplasm
3.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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