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| Prepair 500+ v1.1008 | RYR1 | Zornitza Stark Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.1008 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.1008 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v0.0 | RYR1 |
Seb Lunke gene: RYR1 was added gene: RYR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725 Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 |
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