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| Muscular dystrophy and myopathy_Paediatric v0.174 | MYL1 | Sangavi Sivagnanasundram edited their review of gene: MYL1: Changed publications: 30215711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Marked gene: MYL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Classified gene: MYL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.163 | MYL1 | Bryony Thompson Publications for gene: MYL1 were set to 30275711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | MYL1 |
Sangavi Sivagnanasundram gene: MYL1 was added gene: MYL1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30275711 Phenotypes for gene: MYL1 were set to Congenital Myopathy 14 (MIM#618414) Review for gene: MYL1 was set to AMBER Added comment: Phenotypic onset is seen typically at birth or in utero during pregnancy. Skeletal muscle biopsy typically show a variation in fibre size with specific atrophy of the fast-twitch type II fibres. PMID: 30275711 2 individuals from unrelated consanguineous families. Zebrafish model showed a reduced muscle development resulting in the aberrant phenotypes. Sources: Other |
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