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Intellectual disability - microarray and sequencing v5.484 PPP2R2B Arina Puzriakova Publications for gene: PPP2R2B were set to
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.1519 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing v3.1447 PPP2R2B Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability - microarray and sequencing v3.1447 PPP2R2B Arina Puzriakova Mode of inheritance for gene: PPP2R2B was changed from Other - please specify in evaluation comments to Other
Intellectual disability - microarray and sequencing v3.1446 PPP2R2B Arina Puzriakova Phenotypes for gene: PPP2R2B were changed from Spinocerebellar ataxia 12, 604326 to Spinocerebellar ataxia 12, OMIM:604326
Intellectual disability - microarray and sequencing v3.1445 PPP2R2B Arina Puzriakova Tag watchlist was removed from gene: PPP2R2B.
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.966 PPP2R2B_CAG Arina Puzriakova Tag curated_removed tag was added to STR: PPP2R2B_CAG.
Intellectual disability - microarray and sequencing v3.887 PPP2R2B Arina Puzriakova Source: Expert Review Amber was removed from gene: PPP2R2B
Intellectual disability - microarray and sequencing v2.574 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as No list
Intellectual disability - microarray and sequencing v2.574 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been removed from the panel.
Intellectual disability - microarray and sequencing PPP2R2B Ellen McDonagh commented on STR: PPP2R2B_CAG
Intellectual disability - microarray and sequencing PPP2R2B Ellen McDonagh Added STR to panel
Intellectual disability - microarray and sequencing PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability - microarray and sequencing PPP2R2B BRIDGE consortium edited their review of PPP2R2B
Intellectual disability - microarray and sequencing PPP2R2B BRIDGE consortium edited their review of PPP2R2B
Intellectual disability - microarray and sequencing PPP2R2B Louise Daugherty classified PPP2R2B as amber
Intellectual disability - microarray and sequencing PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability - microarray and sequencing PPP2R2B BRIDGE consortium reviewed PPP2R2B