| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.31 | PACSIN3 | Zornitza Stark Marked gene: PACSIN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.31 | PACSIN3 | Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.31 | PACSIN3 | Zornitza Stark Classified gene: PACSIN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.31 | PACSIN3 | Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.30 | PACSIN3 |
Zornitza Stark gene: PACSIN3 was added gene: PACSIN3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PACSIN3 were set to 38637313 Phenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related Review for gene: PACSIN3 was set to AMBER Added comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. Sources: Literature |
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