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PRRC2A

Synonyms
BAT2, D6S51, D6S51E, G2
External resources
Summary
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene.

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
7
Likely pathogenic
0
VUS
6,866
Likely benign
1,562
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on PRRC2A gene are displayed below. The following symptoms were found in patients with a variant in PRRC2A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
28.6%
Abnormality of the ear
28.6%
Abnormality of the eye
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of blood and blood forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the endocrine system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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