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| Congenital myopathy v3.87 | RYR1 | Arina Puzriakova Phenotypes for gene: RYR1 were changed from Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600 to Central core disease, OMIM:117000; Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000; Minicore myopathy with external ophthalmoplegia, OMIM:255320; King-Denborough syndrome, OMIM:619542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.166 | SRPK3 |
Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating. |
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| Congenital myopathy v1.166 | SRPK3 |
Louise Daugherty commented on gene: SRPK3: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating. |
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| Congenital myopathy v1.120 | RYR1 | Rachael Mein edited their review of gene: RYR1: Changed publications: 26799446; Changed phenotypes: Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.76 | RYR1 | Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.75 | RYR1 | Rachael Mein reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Nemaline myopathy 617336; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.74 | RYR1 | Louise Daugherty Source NHS GMS was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.73 | RYR1 |
Louise Daugherty Source London South GLH was added to RYR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Congenital myopathy | RYR1 | Anna Sarkozy reviewed RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | RYR1 | Helen Brittain marked RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | RYR1 | Helen Brittain classified RYR1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | RYR1 | Helen Brittain reviewed RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||