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MOG

Synonyms
BTN6, BTNL11, MOGIG2, NRCLP7
External resources
Summary
The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
4
Likely pathogenic
0
VUS
3,365
Likely benign
943
Benign
1,218

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on MOG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
75%
Abnormality of the nervous system
75%
Abnormality of head or neck
50%
Abnormality of the eye
50%
Growth abnormality
50%
Abnormality of limbs
25%
Abnormality of the ear
25%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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