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RORC

Synonyms
IMD42, NR1F3, RORG, RZR-GAMMA, RZRG, TOR
External resources
Summary
The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found 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
0
Likely pathogenic
15
VUS
19,946
Likely benign
2,161
Benign
132

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on RORC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
40%
Abnormality of the nervous system
26.7%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of head or neck
13.3%
Abnormality of the digestive system
13.3%
Neoplasm
13.3%
Abnormality of the cardiovascular system
6.7%
Abnormality of the ear
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the eye
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the respiratory system
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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