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PIK3CD

Synonyms
APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, ROCHIS, p110D
External resources
Summary
Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
24
Likely pathogenic
0
VUS
6,228
Likely benign
7,131
Benign
935

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on PIK3CD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
31.6%
Abnormality of the nervous system
26.3%
Abnormality of the integument
21.1%
Abnormality of the musculoskeletal system
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the eye
15.8%
Abnormality of the immune system
15.8%
Abnormality of the respiratory system
10.5%
Growth abnormality
10.5%
Abnormal cellular phenotype
5.3%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of the ear
5.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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