| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital myopathy v3.100 | SRPK3 | Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Nemaline myopathy to Nemaline myopathy, MONDO:0018958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.155 | SRPK3 | Ivone Leong reviewed gene: SRPK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.131 | SRPK3 | Louise Daugherty Phenotypes for gene: SRPK3 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 Nemaline myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.120 | SRPK3 | Rachael Mein edited their review of gene: SRPK3: Changed phenotypes: Nemaline myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.97 | SRPK3 | Louise Daugherty Publications for gene: SRPK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.96 | SRPK3 | Louise Daugherty Phenotypes for gene: SRPK3 were changed from to 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 v1.95 | SRPK3 | Louise Daugherty Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.76 | SRPK3 | Louise Daugherty reviewed gene: SRPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.75 | SRPK3 | Rachael Mein reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26799446; 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; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.74 | SRPK3 | Louise Daugherty Source NHS GMS was added to SRPK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.73 | SRPK3 |
Louise Daugherty gene: SRPK3 was added gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: SRPK3 was set to |
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