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MPPE1

Synonyms
Cdc1, PGAP5
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
23
Likely pathogenic
0
VUS
2,216
Likely benign
390
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on MPPE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of head or neck
31.8%
Abnormality of the eye
31.8%
Abnormality of the musculoskeletal system
27.3%
Abnormality of the ear
22.7%
Abnormality of the integument
13.6%
Abnormality of the cardiovascular system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Abnormality of the genitourinary system
4.5%
Constitutional symptom
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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