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POLR3A

Synonyms
ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
External resources
Summary
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response.

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
18
Likely pathogenic
5
VUS
7,248
Likely benign
5,680
Benign
67

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on POLR3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.8%
Abnormality of the musculoskeletal system
34.8%
Abnormality of the nervous system
34.8%
Abnormality of head or neck
30.4%
Growth abnormality
13%
Abnormality of limbs
8.7%
Abnormality of the cardiovascular system
8.7%
Abnormality of the ear
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the integument
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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