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| Early onset or syndromic epilepsy v5.6 | U2AF2 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.6 | U2AF2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: U2AF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.6 | U2AF2 | Eleanor Williams reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.5 | U2AF2 |
Achchuthan Shanmugasundram Source NHS GMS was added to U2AF2. Source Expert Review Green was added to U2AF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v4.96 | U2AF2 | Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: U2AF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.96 | U2AF2 | Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.96 | U2AF2 | Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.274 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.96 | U2AF2 |
Achchuthan Shanmugasundram gene: U2AF2 was added gene: U2AF2 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: U2AF2. Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193 Phenotypes for gene: U2AF2 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 |
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