Congenital myopathy
Gene: MTM1The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:12 p.m.
Panel Version: 3.14
Comment on mode of inheritance: Rare manifesting females have been reported in literature (PMID: 10323249; 11552027; 12707446; 15883335) as well as by review of Helen Brittain (Genomics England Clinical Team) providing details of a case identified in clinic - “Participant (female singleton) has a phenotype of distal myopathies with facial hypotonia, limb weakness, progressive weakness and abnormality of muscle morphology among the HPO terms".
MOI should therefore be updated form XLR to XLD at the next GMS review.Created: 5 Jul 2022, 9:37 a.m. | Last Modified: 5 Jul 2022, 9:37 a.m.
Panel Version: 2.86
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400
Publications
Comment when marking as ready: Mode of inheritance updatedCreated: 22 Feb 2017, 12:17 p.m.
Both truncating and missense observed in affected males with early onset of symptoms.Created: 26 Jan 2017, 11 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myotubular myopathy, X-linked 310400
Publications
Tag Q3_22_MOI was removed from gene: MTM1.
Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Tag Q3_22_MOI tag was added to gene: MTM1.
Phenotypes for gene: MTM1 were changed from Myopathy, centronuclear, X-linked 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked 310400
Source NHS GMS was added to MTM1.
Source London South GLH was added to MTM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
Publications for MTM1 were set to 8640223
Mode of inheritance for MTM1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
MTM1 was added to Congenital myopathypanel. Sources: Expert
MTM1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MTM1 was added to Congenital myopathypanel. Sources: UKGTN
MTM1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory