Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital myaesthenic syndrome v1.70 | RYR1 | Louise Daugherty Phenotypes for gene: RYR1 were changed from RYR1-related congenital myopathy with fatigable weakness to RYR1-related congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.69 | RYR1 | Louise Daugherty Publications for gene: RYR1 were set to 24951453; 30808424; 30406384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.68 | RYR1 | Louise Daugherty Publications for gene: RYR1 were set to 24951453; 30808424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.67 | RYR1 | Louise Daugherty Phenotypes for gene: RYR1 were changed from to RYR1-related congenital myopathy with fatigable weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.58 | RYR1 | Louise Daugherty Publications for gene: RYR1 were set to 24951453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.57 | RYR1 | Louise Daugherty changed review comment from: Leave as Red, awaiting more information on this gene and potential disease association.; to: Leave as Red, awaiting more information on this gene and potential disease association. From Orphanet review: GeneReview PMID: 30808424 : Primary myopathies may go along with secondary transmission disease, which does not represent congential CMS, such as in patients with congenital myopathy due to TPM2 mutations, or patients carrying mutations in KLHL40, BIN1, DNM2, MTM1, TPM3, or RYR1. Importantly, secondary transmission disease frequently responds beneficially to AchEI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.57 | RYR1 | Louise Daugherty edited their review of gene: RYR1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.56 | RYR1 | Louise Daugherty commented on gene: RYR1: Leave as Red, awaiting more information on this gene and potential disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.34 | RYR1 | Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.20 | RYR1 | Louise Daugherty Publications for gene: RYR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.19 | RYR1 | Louise Daugherty Mode of inheritance for gene: RYR1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.14 | RYR1 | Michael Oldridge reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24951453; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.13 | RYR1 | Louise Daugherty Source NHS GMS was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.12 | RYR1 |
Louise Daugherty gene: RYR1 was added gene: RYR1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RYR1 was set to |