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PMM1

Synonyms
PMM 1, PMMH-22, Sec53
External resources
Summary
Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins.

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
24
Likely pathogenic
0
VUS
965
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carring pathogenic or likely pathogenic variants on PMM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
20.8%
Growth abnormality
16.7%
Abnormality of limbs
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Abnormality of the eye
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormality of the respiratory system
8.3%
Abnormality of the endocrine system
4.2%
Neoplasm
4.2%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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