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REP15

Synonyms
RAB15EP
External resources
Summary
The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface.

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
17
Likely pathogenic
0
VUS
2,562
Likely benign
3
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on REP15 gene are displayed below. The following symptoms were found in patients with a variant in REP15. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
23.1%
Growth abnormality
23.1%
Abnormality of head or neck
15.4%
Abnormality of the integument
15.4%
Abnormality of limbs
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of the genitourinary system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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