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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 | MTM1 | Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 | MTM1 | Arina Puzriakova commented on gene: MTM1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 | 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.43 | 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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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.43 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.42 | MTM1 | Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.42 | MTM1 | Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked, OMIM:310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | MTM1 | Louise Daugherty Source NHS GMS was added to MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | MTM1 | Louise Daugherty Source Yorkshire and North East GLH was added to MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | MTM1 |
Louise Daugherty Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1 Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | MTM1 | Ana Topf edited their review of gene: MTM1: Changed publications: 9305655, 9285787; Changed phenotypes: Myotubular myopathy, X-linked, 310400; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | MTM1 |
Louise Daugherty Source Expert Review was added to MTM1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 | MTM1 | Louise Daugherty Classified gene: MTM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 | MTM1 | Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 | MTM1 | Louise Daugherty Gene: mtm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 | MTM1 | Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 | MTM1 | Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 | MTM1 |
Ana Topf gene: MTM1 was added gene: MTM1 was added to Limb girdle muscular dystrophy. Sources: Literature,Expert list 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; 9285787; 9305655; 10790201; 10502779 Phenotypes for gene: MTM1 were set to 310400 Penetrance for gene: MTM1 were set to Incomplete Review for gene: MTM1 was set to GREEN gene: MTM1 was marked as current diagnostic Added comment: Sources: Literature, Expert list |
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