Congenital muscular dystrophy and congenital myopathy
Gene: MTM1EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 7 panels
6 reviews
Eleanor Williams (Genomics England Curator)
The 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
Arina Puzriakova (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 8640223
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- NHS GMS
- Expert
- Phenotypes
-
- Myopathy, centronuclear, X-linked, OMIM:310400
- OMIM
- 300415
- Clinvar variants
- Variants in MTM1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: MTM1 was added gene: MTM1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MTM1 were set to 8640223 Phenotypes for gene: MTM1 were set to Myopathy, centronuclear, X-linked, OMIM:310400 Penetrance for gene: MTM1 were set to Complete