| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.60 | SF3B1 | Louise Daugherty Classified gene: SF3B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.60 | SF3B1 | Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.60 | SF3B1 | Louise Daugherty Gene: sf3b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | SF3B1 |
Louise Daugherty Source Expert Review Green was added to SF3B1. Mode of inheritance for gene SF3B1 was changed from to Unknown Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.11 | SF3B1 | Louise Daugherty reviewed gene: SF3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | SF3B1 | Frances Smith reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28188970, 21995386; Phenotypes: 605590 Refractory anaemia with ring sideroblasts; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | SF3B1 |
Louise Daugherty Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Publications for gene SF3B1 were changed from to 21995386; 28188970 |
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| Rare anaemia v0.8 | SF3B1 | Louise Daugherty Source NHS GMS was added to SF3B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | SF3B1 |
Louise Daugherty gene: SF3B1 was added gene: SF3B1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: SF3B1 was set to |
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