Activity
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8 actions
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| Severe microcephaly v8.34 | WARS | Ida Ertmanska commented on gene: WARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | WARS | Ida Ertmanska Tag new-gene-name tag was added to gene: WARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | WARS | Eleanor Williams Tag Q3_25_promote_green was removed from gene: WARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | WARS | Eleanor Williams commented on gene: WARS: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.33 | WARS |
Eleanor Williams Source NHS GMS was added to WARS. Source Expert Review Green was added to WARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v8.5 | WARS | Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review as there are 4 families with intellectual disability.; to: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review as there are 4 families with progressive microcephaly in the severe range. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.5 | WARS | Eleanor Williams Entity copied from Intellectual disability v9.34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.5 | WARS |
Eleanor Williams gene: WARS was added gene: WARS was added to Severe microcephaly. Sources: Expert Review Amber,Literature Q3_25_promote_green tags were added to gene: WARS. Mode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WARS were set to 34585293; 35790048; 35815345 Phenotypes for gene: WARS were set to Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317; neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218 |
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