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Congenital myopathy v3.14 | MTM1 | Eleanor Williams Tag Q3_22_MOI was removed from gene: MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | MTM1 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toX-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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | MTM1 | Eleanor Williams commented on gene: MTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.13 | MTM1 | Eleanor Williams 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.86 | MTM1 |
Arina Puzriakova Added comment: 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. |
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Congenital myopathy v2.86 | MTM1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.85 | MTM1 | Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.85 | MTM1 | Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myopathy, centronuclear, X-linked 310400 to Myopathy, centronuclear, X-linked, OMIM:310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.84 | MTM1 | Arina Puzriakova Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked 310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.120 | MTM1 | Rachael Mein edited their review of gene: MTM1: Changed publications: 8640223; Changed phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.76 | MTM1 | Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.75 | MTM1 | Rachael Mein reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25250574; Phenotypes: Nemaline myopathy 10, 616165; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.74 | MTM1 | Louise Daugherty Source NHS GMS was added to MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.73 | MTM1 |
Louise Daugherty Source London South GLH was added to MTM1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital myopathy | MTM1 | Anna Sarkozy reviewed MTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy | MTM1 | Helen Brittain marked MTM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy | MTM1 | Helen Brittain marked MTM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy | MTM1 | Helen Brittain reviewed MTM1 |