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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
83
Likely pathogenic
19
VUS
2,759
Likely benign
809
Benign
389

Patient phenotypes

Proportions of phenotypes among 98 patients carrying pathogenic or likely pathogenic variants on PMM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
19.4%
Abnormality of the eye
16.3%
Abnormality of the cardiovascular system
15.3%
Abnormality of the ear
12.2%
Abnormality of the genitourinary system
10.2%
Abnormality of head or neck
9.2%
Growth abnormality
9.2%
Abnormality of the immune system
8.2%
Abnormality of the digestive system
7.1%
Constitutional symptom
4.1%
Abnormality of blood and blood-forming tissues
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the integument
3.1%
Abnormality of the respiratory system
3.1%
Neoplasm
3.1%
Abnormality of limbs
2%
Abnormal cellular phenotype
1%
Abnormality of prenatal development or birth
1%
Abnormality of the voice
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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