Activity
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| Cytopenia - NOT Fanconi anaemia v4.31 | RPL17 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotype in OMIM (MIM #621262) and this OMIM record was last accessed on 20 January 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.31 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.30 | RPL17 | Achchuthan Shanmugasundram edited their review of gene: RPL17: Changed phenotypes to: Diamond-Blackfan anemia 22, OMIM:621262, Diamond-Blackfan anemia 22, MONDO:0979244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.30 | RPL17 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: RPL17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.30 | RPL17 | Achchuthan Shanmugasundram commented on gene: RPL17: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.29 | RPL17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPL17. Source NHS GMS was added to RPL17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v4.16 | RPL17 | Achchuthan Shanmugasundram Classified gene: RPL17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.16 | RPL17 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are two unrelated pedigrees and functional evidence available in support of the association of this gene to phenotype. Hence, this can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.16 | RPL17 | Achchuthan Shanmugasundram Gene: rpl17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.15 | RPL17 | Achchuthan Shanmugasundram Phenotypes for gene: RPL17 were changed from Diamond-Blackfan anemia to Diamond-Blackfan anemia, MONDO:0015253 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.14 | RPL17 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: RPL17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v4.14 | RPL17 | Achchuthan Shanmugasundram reviewed gene: RPL17: Rating: GREEN; Mode of pathogenicity: None; Publications: 39088281; Phenotypes: Diamond-Blackfan anemia, MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.36 | RPL17 |
Dmitrijs Rots gene: RPL17 was added gene: RPL17 was added to Cytopenia - NOT Fanconi anaemia. Sources: 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 Penetrance for gene: RPL17 were set to Incomplete Review for gene: RPL17 was set to GREEN Added comment: PMID: 39088281 described 2 families with Diamond-Blackfan anemia & functional data. Enough evidence for the green rating. probably gene should be added also to other panels (like limb disorders; hematological malignancies). Sources: Literature |
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