Home > Gene Browser > POMGNT1

POMGNT1

Synonyms
GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2
External resources
Summary
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.

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
8
Likely pathogenic
5
VUS
1,781
Likely benign
5,388
Benign
144

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on POMGNT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of head or neck
38.5%
Abnormality of the musculoskeletal system
38.5%
Abnormality of the cardiovascular system
30.8%
Abnormality of the eye
23.1%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the ear
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the integument
7.7%
Abnormality of the respiratory system
7.7%
Growth abnormality
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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