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| Muscular dystrophy and myopathy_Paediatric v0.138 | BIN1 | Bryony Thompson Marked gene: BIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.138 | BIN1 | Bryony Thompson Gene: bin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.138 | BIN1 | Bryony Thompson Publications for gene: BIN1 were set to 17676042; 29950440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.137 | BIN1 | Bryony Thompson Classified gene: BIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.137 | BIN1 | Bryony Thompson Added comment: Comment on list classification: ClinGen Definititive for semidominant centronuclear myopathy by the Congenital myopathy GCEP - Classification - 27/04/2020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.137 | BIN1 | Bryony Thompson Gene: bin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | BIN1 |
Sangavi Sivagnanasundram gene: BIN1 was added gene: BIN1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: BIN1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: BIN1 were set to 17676042; 29950440 Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2 (MONDO: 0009709; MIM#255200) Review for gene: BIN1 was set to GREEN Added comment: PMID: 17676042 3 unrelated consanguineous families with centronuclear myopathy 2. Age of onset ranged from birth to childhood PMID: 29950440 Homozygous patients have a more specific and severe phenotype compared to compound heterozygous patients with similar age of onset Sources: Other |
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