Home > Gene Browser > REEP6

REEP6

Synonyms
C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB2L1, Yip2f
External resources
Summary
The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77.

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
10
Likely pathogenic
0
VUS
2,283
Likely benign
4,547
Benign
31

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on REEP6 gene are displayed below.

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