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Early onset or syndromic epilepsy v1.191 GABRB2 Rebecca Foulger Source Wessex and West Midlands GLH was added to GABRB2.
Early onset or syndromic epilepsy v1.190 GABRB2 Rebecca Foulger Source NHS GMS was added to GABRB2.
Early onset or syndromic epilepsy v1.189 GABRB2 Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GABRB2 Tracy Lester reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29053855; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1060 GABRB2 Louise Daugherty Marked gene: GABRB2 as ready
Early onset or syndromic epilepsy v0.1060 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Marked gene: GABRB2 as ready
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Classified gene: GABRB2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1054 GABRB2 Louise Daugherty Mode of inheritance for gene: GABRB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1053 GABRB2 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green. Hamdan et al. (2017) PMID 29100083 reported 3 unrelated cases with de novo missense variants in GABRB2 who had developmental and epileptic encephalopathy. Srivastava et al. (2014) PMID 25124326 . Ishii et al. (2017) PMID: 27789573 describes a 12-year old girl with intellectual disability and epilepsy due to another de novo missense variant in GABRB2 epileptic seizures. Ishii et al. (2017) PMID 27789573 describes a patient with early myoclonic encephalopathy and severe psycomotor delay, due to a de novo heterozygous missense mutation in GABRB2.
Early onset or syndromic epilepsy v0.1053 GABRB2 Louise Daugherty Publications for gene: GABRB2 were set to
Early onset or syndromic epilepsy v0.1052 GABRB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1052 GABRB2 Louise Daugherty Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, 617829
Early onset or syndromic epilepsy GABRB2 Zornitza Stark reviewed gene: GABRB2
Early onset or syndromic epilepsy GABRB2 Sarah Leigh Added gene to panel