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POMT1

Synonyms
LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
External resources
Summary
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 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) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.

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
1,669
Likely benign
819
Benign
3,814

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on POMT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the immune system
5.6%
Abnormality of the integument
5.6%
Growth abnormality
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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