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PIGL

Synonyms
CHIME
External resources
Summary
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum.

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
20
Likely pathogenic
0
VUS
925
Likely benign
542
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PIGL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the eye
31.6%
Abnormality of head or neck
21.1%
Abnormality of the musculoskeletal system
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the genitourinary system
15.8%
Abnormality of the integument
15.8%
Growth abnormality
15.8%
Abnormality of blood and blood-forming tissues
10.5%
Abnormality of the ear
10.5%
Abnormality of limbs
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the breast
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the respiratory system
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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