Activity
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16 actions
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| Rare anaemia v0.57 | GIF | Louise Daugherty changed review comment from: 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 Green.; to: 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 Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.57 | GIF | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.57 | GIF | Louise Daugherty Classified gene: GIF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.57 | GIF | 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 Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.57 | GIF | Louise Daugherty Gene: gif has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.56 | GIF | Louise Daugherty Classified gene: GIF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.56 | GIF | 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 v0.56 | GIF | Louise Daugherty Gene: gif has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | GIF | Louise Daugherty commented on gene: GIF: New approved HGNC gene symbol for GIF is CBLIF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | GIF | Louise Daugherty Tag new-gene-name tag was added to gene: GIF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | GIF |
Louise Daugherty Source Expert Review Green was added to GIF. Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.11 | GIF | Louise Daugherty reviewed gene: GIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | GIF | Frances Smith reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 14576042, 15738392; Phenotypes: 261000 Intrinsic factor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | GIF |
Louise Daugherty Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Publications for gene GIF were changed from to 14576042; 15738392 |
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| Rare anaemia v0.8 | GIF | Louise Daugherty Source NHS GMS was added to GIF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | GIF |
Louise Daugherty gene: GIF was added gene: GIF was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: GIF was set to |
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