| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.58 | UMPS | Louise Daugherty Classified gene: UMPS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.58 | UMPS | 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 Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.58 | UMPS | Louise Daugherty Gene: umps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | UMPS |
Louise Daugherty Source Expert Review Green was added to UMPS. Mode of inheritance for gene UMPS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.11 | UMPS | Louise Daugherty reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | UMPS | Frances Smith reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: 258900 Orotic aciduria with megaloblastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | UMPS |
Louise Daugherty Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Publications for gene UMPS were changed from to 9042911 |
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| Rare anaemia v0.8 | UMPS | Louise Daugherty Source NHS GMS was added to UMPS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | UMPS |
Louise Daugherty gene: UMPS was added gene: UMPS was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: UMPS was set to |
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