MTM1 Chromosome X
Myotubularin 1
Upload your DNA to see your personal genotypes for variants in MTM1.
What This Gene Does
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myotubularins|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000171100
Associated Conditions (18)
Severe X-linked myotubular myopathy
Inborn genetic diseases
Malignant tumor of esophagus
Colorectal cancer
Nonpapillary renal cell carcinoma
MTM1-related disorder
Familial Mediterranean fever
autosomal dominant
Thyroid cancer
nonmedullary
1
Centronuclear myopathy
Generalized hypotonia
Ovarian serous cystadenocarcinoma
Neurodevelopmental disorder
Qualitative or quantitative defects of myotubularin
Spastic paraplegia
Congenital myopathy with fiber type disproportion
Key Variants
RS1327304427
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
Health Risk
RS140642341
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS144473998
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS148195763
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS150430628
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Malignant tumor of esophagus
Health Risk
RS1557412510
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS201373390
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, MTM1-related disorder, Inborn genetic diseases
Health Risk
RS2148488364
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
Health Risk
RS368335697
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
Health Risk
RS372053838
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS372351233
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Inborn genetic diseases, Severe X-linked myotubular myopathy
Health Risk
RS398123265
Conflicting classifications of pathogenicity
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
Health Risk
All Variants (255)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587783797 | Health Risk | Pathogenic/Likely pathogenic | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783802 | Health Risk | Pathogenic/Likely pathogenic | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783810 | Health Risk | Pathogenic/Likely pathogenic | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783836 | Health Risk | Pathogenic/Likely pathogenic | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783850 | Health Risk | Pathogenic/Likely pathogenic | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |