| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Marked gene: STAC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Classified gene: STAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | STAC3 |
Sangavi Sivagnanasundram gene: STAC3 was added gene: STAC3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28411587; 28777491 Phenotypes for gene: STAC3 were set to Congenital myopathy 13 (MIM#255995) Review for gene: STAC3 was set to GREEN Added comment: Also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM) PMID: 28411587 An individual with congenital muscle weakness and contracture and clinical phenotypes consistent with myopathy. PMID: 28777491 3 individuals from 2 unrelated consanguineous families with clinical symptoms of myopathy. (Note: Individuals with a mutation in STAC3 are shown to have MH susceptibility in the presence of anesthesia.) Sources: Other |
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