Activity
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12 actions
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| Intellectual disability v8.130 | DDX17 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DDX17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | DDX17 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: DDX17. Tag Q3_24_NHS_review was removed from gene: DDX17. |
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| Intellectual disability v8.97 | DDX17 | Sarah Leigh reviewed gene: DDX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | DDX17 |
Sarah Leigh Source NHS GMS was added to DDX17. Source Expert Review Green was added to DDX17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v7.63 | DDX17 | Achchuthan Shanmugasundram Classified gene: DDX17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.63 | DDX17 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.63 | DDX17 | Achchuthan Shanmugasundram Gene: ddx17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.62 | DDX17 | Achchuthan Shanmugasundram Phenotypes for gene: DDX17 were changed from Intellectual disability; delayed speech and language; motor delay to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.62 | DDX17 | Achchuthan Shanmugasundram Publications for gene: DDX17 were set to PMID: 39405200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.61 | DDX17 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DDX17. Tag Q3_24_NHS_review tag was added to gene: DDX17. |
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| Intellectual disability v7.61 | DDX17 | Achchuthan Shanmugasundram reviewed gene: DDX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 39405200; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.61 | DDX17 |
Hannah Knight gene: DDX17 was added gene: DDX17 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX17 were set to PMID: 39405200 Phenotypes for gene: DDX17 were set to Intellectual disability; delayed speech and language; motor delay Review for gene: DDX17 was set to GREEN Added comment: PMID: 39405200 (2024) - new paper identified 11 patients with de novo, monoallelic variants in DDX17 and neurodevelopmental phenotypes + experimental evidence Sources: Literature |
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