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MTMR2

Synonyms
CMT4B, CMT4B1
External resources
Summary
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
2
VUS
5,021
Likely benign
1,674
Benign
537

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on MTMR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
41.4%
Abnormality of the nervous system
34.5%
Abnormality of the musculoskeletal system
27.6%
Abnormality of the eye
20.7%
Abnormality of the ear
13.8%
Abnormality of limbs
10.3%
Abnormality of the endocrine system
10.3%
Growth abnormality
10.3%
Abnormality of the cardiovascular system
6.9%
Abnormality of the genitourinary system
6.9%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the digestive system
3.4%
Abnormality of the immune system
3.4%
Abnormality of the integument
3.4%
Constitutional symptom
3.4%
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%
Neoplasm
0%

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