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RILPL2

Synonyms
RLP2
External resources
Summary
This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate 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
31
Likely pathogenic
0
VUS
1,425
Likely benign
44
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on RILPL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
18.5%
Abnormality of the cardiovascular system
18.5%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of blood and blood-forming tissues
7.4%
Abnormality of the ear
7.4%
Abnormality of the eye
7.4%
Abnormality of the integument
7.4%
Growth abnormality
7.4%
Abnormality of prenatal development or birth
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the respiratory system
3.7%
Constitutional symptom
3.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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