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Intellectual disability v8.96 GABBR2 Arina Puzriakova Added comment: Comment on publications: PMID: 39028675 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
Intellectual disability v8.96 GABBR2 Arina Puzriakova Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213; 39028675
Intellectual disability v8.95 GABBR2 Arina Puzriakova Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213
Intellectual disability v8.94 GABBR2 Arina Puzriakova Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 to Developmental and epileptic encephalopathy 59, OMIM:617904; eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903
Intellectual disability v2.1021 GABBR2 Rebecca Foulger commented on gene: GABBR2: Added missense tag: only missense variants (A707T and A567T) reported so far in the literature.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Tag missense tag was added to gene: GABBR2.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Classified gene: GABBR2 as Green List (high evidence)
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Added comment: Comment on list classification: Updated gene from Amber to Green: As noted by Konstantinos Varvagiannis, an additional 2018 study has been published associating a new GABBR2 variant (A707T) with a RETT-like phenotype including intellectual impairment (PMID:29369404). This adds to the previous papers documenting the recurring p.Ala567Thr variant in RETT-like patients from Portugal (PMID:26740508) and Korea (PMID:28856709). Plus OMIM has been updated since the Dec 2017 curation to include neurodevelopmental disorder MIM:617904. Thirdly, email correspondence from J. Evans notes a patient with a relevant phenotype and a previously-published pathogenic variant in GABBR2. Therefore sufficient unrelated cases to support a Green rating.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Gene: gabbr2 has been classified as Green List (High Evidence).
Intellectual disability v2.1020 GABBR2 Rebecca Foulger commented on gene: GABBR2
Intellectual disability v2.1020 GABBR2 Rebecca Foulger Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Intellectual disability v2.1019 GABBR2 Rebecca Foulger Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709
Intellectual disability GABBR2 Konstantinos Varvagiannis reviewed gene: GABBR2
Intellectual disability GABBR2 Ellen McDonagh classified GABBR2 as Amber List (moderate evidence)