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POLR3B

Synonyms
C128, HLD8, INMAP, RPC2
External resources
Summary
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
55
Likely pathogenic
8
VUS
5,597
Likely benign
2,053
Benign
1,142

Patient phenotypes

Proportions of phenotypes among 53 patients carrying pathogenic or likely pathogenic variants on POLR3B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
41.5%
Constitutional symptom
24.5%
Abnormality of the nervous system
18.9%
Abnormality of the musculoskeletal system
13.2%
Abnormality of the ear
11.3%
Abnormality of the eye
11.3%
Abnormality of head or neck
7.5%
Abnormality of limbs
7.5%
Abnormality of the integument
5.7%
Abnormality of the respiratory system
5.7%
Abnormality of blood and blood-forming tissues
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the digestive system
1.9%
Abnormality of the immune system
1.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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