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RCAN1

Synonyms
ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1
External resources
Summary
The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants.

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
13
VUS
2,219
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on RCAN1 gene are displayed below. The following symptoms were found in patients with a variant in RCAN1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
45%
Abnormality of the eye
45%
Abnormality of the cardiovascular system
20%
Abnormality of limbs
10%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Growth abnormality
10%
Abnormality of prenatal development or birth
5%
Abnormality of the breast
5%
Abnormality of the integument
5%
Abnormality of the respiratory system
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
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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