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POMT2

Synonyms
LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
External resources
Summary
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).

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
17
Likely pathogenic
1
VUS
4,496
Likely benign
1,373
Benign
180

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on POMT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.4%
Abnormality of the eye
23.5%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the cardiovascular system
17.6%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of head or neck
11.8%
Abnormality of prenatal development or birth
11.8%
Abnormality of the ear
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the endocrine system
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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