| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v1.40 | RPL31 | Eleanor Williams Tag gene-checked tag was added to gene: RPL31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.75 | RPL31 | Louise Daugherty Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.63 | RPL31 | 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 be 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 be Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.63 | RPL31 | Louise Daugherty Classified gene: RPL31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.63 | RPL31 | 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 v0.63 | RPL31 | Louise Daugherty Gene: rpl31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | RPL31 | Louise Daugherty commented on gene: RPL31: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL31; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A ? Diamond-Blackfan Anaemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | RPL31 | Mandy nesbitt reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A ? Diamond-Blackfan Anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | RPL31 | Louise Daugherty Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | RPL31 | Louise Daugherty Source Yorkshire and North East GLH was added to RPL31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | RPL31 | Louise Daugherty reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | RPL31 | Carl Fratter reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | RPL31 | Louise Daugherty Source NHS GMS was added to RPL31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | RPL31 |
Louise Daugherty Source Expert Review Green was added to RPL31. Mode of inheritance for gene RPL31 was changed from to Unknown Publications for gene RPL31 were changed from to 25424902; 25042156 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | RPL31 |
Louise Daugherty gene: RPL31 was added gene: RPL31 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL31 was set to |
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