As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Clear causation for MTM1 and the phenotype, however hydrocephalus is not a consistent feature. PMID 8588581 reports the presence in several patients based upon clinical ascertainment, however PMID 9931531 contains a review of many more cases and it is only noted in one. On balance, unlikely to be beneficial for this panel as it is not a clear feature and profound weakness would prompt presentation via other routes.
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Myotubular myopathy, X-linked
Source NHS GMS was added to MTM1.
31.05.2017 - panel revised after internal curation and clinical review.
MTM1 was added to Hydrocephaluspanel. Source: Expert Review Amber
MTM1 was added to Hydrocephaluspanel. Sources: Literature
MTM1 was created by helen.brittain