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SCAMP2

Synonyms
-
External resources
Summary
This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. 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
9
Likely pathogenic
0
VUS
4,703
Likely benign
232
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on SCAMP2 gene are displayed below. The following symptoms were found in patients with a variant in SCAMP2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
44.4%
Abnormality of the musculoskeletal system
44.4%
Abnormality of the nervous system
44.4%
Growth abnormality
44.4%
Abnormality of head or neck
22.2%
Abnormality of metabolism homeostasis
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of blood and blood forming tissues
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the ear
11.1%
Abnormality of the eye
11.1%
Abnormality of the immune system
11.1%
Constitutional symptom
11.1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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