| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.55 | FTCD | Louise Daugherty Classified gene: FTCD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.55 | FTCD | 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 v0.55 | FTCD | Louise Daugherty Gene: ftcd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.12 | FTCD |
Louise Daugherty Source Expert Review Green was added to FTCD. Mode of inheritance for gene FTCD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.11 | FTCD | Louise Daugherty reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | FTCD | Frances Smith reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: 229100 Glutamate formiminotransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | FTCD |
Louise Daugherty Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Publications for gene FTCD were changed from to 12815595 |
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| Rare anaemia v0.8 | FTCD | Louise Daugherty Source NHS GMS was added to FTCD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | FTCD |
Louise Daugherty gene: FTCD was added gene: FTCD was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: FTCD was set to |
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