Activity
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11 actions
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| Intellectual disability v7.49 | WDR5 | Arina Puzriakova Tag gene-checked tag was added to gene: WDR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | WDR5 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: WDR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | WDR5 | Achchuthan Shanmugasundram commented on gene: WDR5: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.40 | WDR5 |
Achchuthan Shanmugasundram Source NHS GMS was added to WDR5. Source Expert Review Green was added to WDR5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v6.28 | WDR5 | Achchuthan Shanmugasundram Classified gene: WDR5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.28 | WDR5 | 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 v6.28 | WDR5 | Achchuthan Shanmugasundram Gene: wdr5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.28 | WDR5 | Achchuthan Shanmugasundram Classified gene: WDR5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.28 | WDR5 | 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 v6.28 | WDR5 | Achchuthan Shanmugasundram Gene: wdr5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.27 | WDR5 |
Achchuthan Shanmugasundram gene: WDR5 was added gene: WDR5 was added to Intellectual disability. Sources: Literature Q2_24_promote_green tags were added to gene: WDR5. Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR5 were set to 36408368 Phenotypes for gene: WDR5 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Mode of pathogenicity for gene: WDR5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: WDR5 was set to GREEN Added comment: PMID:36408368 reported the identification of six different de novo missense variants in 11 affected individuals with a neurodevelopmental disorder with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. 9 of 11 probands have intellectual disability (five with moderate ID, three with mild ID and one with borderline ID). In vivo and in vitro functional studies suggested that loss-of-function is not the mechanism of disease. However, the mechanism of disease is yet to be established. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not associated with phenotypes in OMIM. Sources: Literature |
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