Comment on mode of inheritance: Rare manifesting females reported
Created: 22 Dec 2016, 9:38 a.m.
Congenital contractures including talipes seen in most severe form
Created: 22 Dec 2016, 9:37 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Myotubular myopathy, X-linked 310400
Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
Publications for MTM1 were set to 10790201; 20301605
Mode of inheritance for MTM1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
MTM1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory MTM1 was added to Arthrogryposispanel. Source: UKGTN MTM1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MTM1 was added to Arthrogryposispanel. Source: Expert
MTM1 was added to Arthrogryposispanel. Sources: Expert list
MTM1 was created by ellenmcdonagh