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Intellectual disability v8.160 PPP2R2B Sarah Leigh Mode of pathogenicity for gene: PPP2R2B was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Intellectual disability v8.159 PPP2R2B Sarah Leigh Classified gene: PPP2R2B as Amber List (moderate evidence)
Intellectual disability v8.159 PPP2R2B Sarah Leigh Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.158 PPP2R2B Sarah Leigh Added comment: Comment on phenotypes: The PPP2R2B_CAG variant is associated with Spinocerebellar ataxia 12, OMIM:604326
Intellectual disability v8.158 PPP2R2B Sarah Leigh Phenotypes for gene: PPP2R2B were changed from Spinocerebellar ataxia 12, OMIM:604326 to neurodevelopmental syndrome
Intellectual disability v8.157 PPP2R2B Sarah Leigh Added comment: Comment on publications: PMID: 39565297 was 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.
Intellectual disability v8.157 PPP2R2B Sarah Leigh Publications for gene: PPP2R2B were set to 25356899
Intellectual disability v8.156 PPP2R2B Sarah Leigh edited their review of gene: PPP2R2B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.156 PPP2R2B Sarah Leigh Tag nucleotide-repeat-expansion was removed from gene: PPP2R2B.
Tag currently-ngs-unreportable was removed from gene: PPP2R2B.
Tag Q1_25_ promote_green tag was added to gene: PPP2R2B.
Intellectual disability v8.156 PPP2R2B Sarah Leigh reviewed gene: PPP2R2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39565297, 25356899; Phenotypes: neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v8.156 PPP2R2B_CAG Sarah Leigh reviewed STR: PPP2R2B_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v5.484 PPP2R2B Arina Puzriakova Publications for gene: PPP2R2B were set to
Intellectual disability v5.483 PPP2R2B Arina Puzriakova edited their review of gene: PPP2R2B: Added comment: - PMID: 25356899 (2014) - missense variant (c.413G>C, p.Arg138Pro) in the PPP2R2B gene identified in a 7-year-old boy with moderate ID, intractable seizures and autistic features. Otherwise limited information provided.

Comment on publications: PMID: 25356899 was 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; Changed publications to: 25356899; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.1519 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Intellectual disability v3.1515 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Intellectual disability v3.1448 PPP2R2B Arina Puzriakova Mode of pathogenicity for gene: PPP2R2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v3.1447 PPP2R2B Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1447 PPP2R2B Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from Other - please specify in evaluation comments to Other
Intellectual disability v3.1446 PPP2R2B Arina Puzriakova Phenotypes for gene: PPP2R2B were changed from Spinocerebellar ataxia 12, 604326 to Spinocerebellar ataxia 12, OMIM:604326
Intellectual disability v3.1445 PPP2R2B Arina Puzriakova Tag watchlist was removed from gene: PPP2R2B.
Intellectual disability v3.1445 PPP2R2B_CAG Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Intellectual disability v3.966 PPP2R2B_CAG Arina Puzriakova Tag curated_removed tag was added to STR: PPP2R2B_CAG.
Intellectual disability v3.887 PPP2R2B Arina Puzriakova Source: Expert Review Amber was removed from gene: PPP2R2B
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as No list
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been removed from the panel.
Intellectual disability PPP2R2B Ellen McDonagh commented on STR: PPP2R2B_CAG
Intellectual disability PPP2R2B Ellen McDonagh Added STR to panel
Intellectual disability PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability PPP2R2B BRIDGE consortium edited their review of PPP2R2B
Intellectual disability PPP2R2B BRIDGE consortium edited their review of PPP2R2B
Intellectual disability PPP2R2B Louise Daugherty classified PPP2R2B as amber
Intellectual disability PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability PPP2R2B BRIDGE consortium reviewed PPP2R2B