MTMR2 Chromosome 11
Myotubularin related protein 2
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What This Gene Does
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. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Myotubularins|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000087053
Associated Conditions (5)
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1
MTMR2-related disorder
Inborn genetic diseases
Key Variants
RS116750638
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS138746296
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS139369561
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS142155860
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4
Health Risk
RS146572467
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease
Health Risk
RS149476960
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS1555056865
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
Health Risk
RS1590997541
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS200083635
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS200285624
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, MTMR2-related disorder
Health Risk
RS371105248
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
RS371925152
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116750638 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1 |
| RS138746296 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS139369561 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS142155860 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4 |
| RS146572467 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease |
| RS149476960 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1 |
| RS1555056865 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1590997541 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1 |
| RS200083635 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS200285624 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, MTMR2-related disorder |
| RS371105248 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS371925152 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease |
| RS377006678 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Inborn genetic diseases |
| RS574213477 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS752523757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756909627 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease |
| RS768562214 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1 |
| RS775961979 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Inborn genetic diseases |
| RS923973985 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B1 |
| RS1214822130 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1555060614 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1555061026 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4 |
| RS1565351898 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1590968942 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1863859239 | Health Risk | Likely pathogenic | — |
| RS1864436629 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS2496397705 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2496508385 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS751292488 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS770852495 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS115506357 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1171462240 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS121434402 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1 |
| RS121434403 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS121434404 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1358449243 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4 |
| RS1555057316 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4 |
| RS1555060024 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1565342506 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1590970875 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease |
| RS1590971080 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1590974546 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1590974596 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1590997023 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1863269109 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1863365049 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1863723947 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1863944217 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1864438088 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1867034667 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |