Home > Gene Browser > IMPG2

IMPG2

Synonyms
IPM200, RP56, SPACRCAN, VMD5
External resources
Summary
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.

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
11,175
Likely benign
343
Benign
181

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on IMPG2 gene are displayed below. The following symptoms were found in patients with a variant in IMPG2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
35.3%
Abnormality of the nervous system
35.3%
Growth abnormality
35.3%
Abnormality of the musculoskeletal system
29.4%
Abnormality of the cardiovascular system
17.6%
Abnormality of the ear
17.6%
Abnormality of the eye
17.6%
Abnormality of limbs
11.8%
Abnormality of the genitourinary system
5.9%
Abnormality of the immune system
5.9%
Abnormality of the integument
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 digestive system
0%
Abnormality of the endocrine 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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