| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Marked gene: TNNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Classified gene: TNNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.49 | TNNT1 |
Bryony Thompson gene: TNNT1 was added gene: TNNT1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT1 were set to 31970803 Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type MIM#605355 Review for gene: TNNT1 was set to AMBER Added comment: 4 individuals belonging to 3 apparently unrelated families of French Canadian ancestry harbouring a novel homozygous TNNT1 (NM_003283.6:c.287T>C; p.Leu96Pro) missense with recurrent episodes of rhabdomyolysis. Sources: Expert list |
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