Activity
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7 actions
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| Rare anaemia v3.17 | RPL17 |
Achchuthan Shanmugasundram commented on gene: RPL17: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted that it would be appropriate to add this gene with green rating to R92 Rare anaemia in addition to R91 Cytopenia - NOT Fanconi anaemia. |
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| Rare anaemia v3.17 | RPL17 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #621262) and this OMIM record was last accessed on 20 January 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.17 | RPL17 | Achchuthan Shanmugasundram Phenotypes for gene: RPL17 were changed from Diamond-Blackfan anemia, MONDO:0015253 to Diamond-Blackfan anemia 22, OMIM:621262; Diamond-Blackfan anemia 22, MONDO:0979244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.16 | RPL17 | Achchuthan Shanmugasundram edited their review of gene: RPL17: Changed phenotypes to: Diamond-Blackfan anemia 22, OMIM:621262, Diamond-Blackfan anemia 22, MONDO:0979244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.16 | RPL17 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.16 | RPL17 | Achchuthan Shanmugasundram Entity copied from Cytopenia - NOT Fanconi anaemia v4.30 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.16 | RPL17 |
Achchuthan Shanmugasundram gene: RPL17 was added gene: RPL17 was added to Rare anaemia. Sources: Expert Review Green,NHS GMS,Literature Mode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL17 were set to 39088281 Phenotypes for gene: RPL17 were set to Diamond-Blackfan anemia, MONDO:0015253 Penetrance for gene: RPL17 were set to Incomplete |
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