| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cytopenia - NOT Fanconi anaemia v0.88 | RPL15 | Louise Daugherty Classified gene: RPL15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.88 | RPL15 | Louise Daugherty Added comment: 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 in this panel and there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.88 | RPL15 | Louise Daugherty Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.53 | RPL15 | Louise Daugherty Source London South GLH was added to RPL15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.52 | RPL15 | Louise Daugherty commented on gene: RPL15: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.51 | RPL15 | Frances Smith reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.40 | RPL15 | Louise Daugherty Publications for gene: RPL15 were set to 23812780; 19438500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | RPL15 | Louise Daugherty reviewed gene: RPL15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | RPL15 | Carl Fratter reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | RPL15 | Louise Daugherty Source NHS GMS was added to RPL15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | RPL15 |
Louise Daugherty Source Expert Review Green was added to RPL15. Mode of inheritance for gene RPL15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15 Publications for gene RPL15 were changed from to 23812780; 19438500 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | RPL15 |
Louise Daugherty gene: RPL15 was added gene: RPL15 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL15 was set to |
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