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RERE

Synonyms
ARG, ARP, ATN1L, DNB1, NEDBEH
External resources
Summary
This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. 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
5
Likely pathogenic
12
VUS
4,812
Likely benign
2,173
Benign
2,361

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on RERE gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of the musculoskeletal system
41.2%
Abnormality of head or neck
35.3%
Abnormality of the eye
23.5%
Abnormality of the immune system
23.5%
Abnormality of the ear
17.6%
Abnormality of the cardiovascular system
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of limbs
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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