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| DDG2P v3.12 | MTM1 | Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTM1 | Achchuthan Shanmugasundram Publications for gene: MTM1 were updated from 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 to 9285787; 8640223; 12707446; 7611280; 9450905; 12859411; 11552027; 10790201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTM1 | Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MTM1 |
Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400 |
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