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PMM2

Synonyms
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
External resources
Summary
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.

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
53
Likely pathogenic
18
VUS
1,480
Likely benign
614
Benign
217

Patient phenotypes

Proportions of phenotypes among 70 patients carring pathogenic or likely pathogenic variants on PMM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the eye
18.6%
Abnormality of the ear
15.7%
Abnormality of the genitourinary system
14.3%
Growth abnormality
11.4%
Abnormality of head or neck
10%
Abnormality of the cardiovascular system
8.6%
Abnormality of the immune system
7.1%
Abnormality of the digestive system
5.7%
Abnormality of blood and blood-forming tissues
4.3%
Constitutional symptom
4.3%
Neoplasm
4.3%
Abnormality of limbs
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the integument
2.9%
Abnormality of the respiratory system
1.4%
Abnormality of the voice
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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