Activity
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| Early onset or syndromic epilepsy v8.139 | PPP2R2B | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: PPP2R2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | PPP2R2B | Achchuthan Shanmugasundram reviewed gene: PPP2R2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | PPP2R2B |
Arina Puzriakova Source NHS GMS was added to PPP2R2B. Source Expert Review Green was added to PPP2R2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v7.74 | PPP2R2B | Sarah Leigh Classified gene: PPP2R2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.74 | PPP2R2B | Sarah Leigh Gene: ppp2r2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.73 | PPP2R2B | Sarah Leigh Added comment: Comment on publications: PMID: 39565297 and 25356899 were identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.73 | PPP2R2B | Sarah Leigh Publications for gene: PPP2R2B were set to 39565297; 25356899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.72 | PPP2R2B | Sarah Leigh Added comment: Comment on phenotypes: The PPP2R2B_CAG variant is associated with Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.72 | PPP2R2B | Sarah Leigh Phenotypes for gene: PPP2R2B were changed from neurodevelopmental syndrome to neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.71 | PPP2R2B |
Sarah Leigh gene: PPP2R2B was added gene: PPP2R2B was added to Early onset or syndromic epilepsy. Sources: Literature Q1_25_ promote_green tags were added to gene: PPP2R2B. Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R2B were set to 39565297; 25356899 Phenotypes for gene: PPP2R2B were set to neurodevelopmental syndrome Review for gene: PPP2R2B was set to GREEN Added comment: Sources: Literature |
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