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PER3

Synonyms
FASPS3, GIG13
External resources
Summary
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple 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
70
Likely pathogenic
0
VUS
1,909
Likely benign
2,450
Benign
11,649

Patient phenotypes

Proportions of phenotypes among 70 patients carrying pathogenic or likely pathogenic variants on PER3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
22.9%
Abnormality of the eye
22.9%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
10%
Abnormality of the ear
10%
Abnormality of the digestive system
8.6%
Abnormality of the immune system
8.6%
Abnormality of limbs
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of blood and blood-forming tissues
5.7%
Growth abnormality
5.7%
Neoplasm
5.7%
Constitutional symptom
4.3%
Abnormality of the integument
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of prenatal development or birth
1.4%
Abnormality of the endocrine system
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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