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GPCPD1

Synonyms
EDI3, GDE5, GDPD6, PREI4
External resources

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
4,358
Likely benign
1,250
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on GPCPD1 gene are displayed below. The following symptoms were found in patients with a variant in GPCPD1. However, patients may have been diagnosed with a different variant.

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