Activity
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8 actions
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| Early onset or syndromic epilepsy v7.39 | CUX1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CUX1. Tag Q3_24_NHS_review was removed from gene: CUX1. |
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| Early onset or syndromic epilepsy v7.39 | CUX1 | Sarah Leigh commented on gene: CUX1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.38 | CUX1 |
Sarah Leigh Source NHS GMS was added to CUX1. Source Expert Review Green was added to CUX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.3 | CUX1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CUX1. Tag Q3_24_NHS_review tag was added to gene: CUX1. |
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| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Classified gene: CUX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Gene: cux1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.2 | CUX1 |
Sarah Leigh gene: CUX1 was added gene: CUX1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 37644171 Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, OMIM:618330; global developmental delay with or without impaired intellectual development, MONDO:0032680 Review for gene: CUX1 was set to GREEN Added comment: Variants in CUX1 have been associated with Global developmental delay with or without impaired intellectual development (OMIM:618330). PMID: 37644171 reports epileptic seizures in 8/34 individuals carrying different CUX1 variants (supplementary table 1). Sources: Literature |
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