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Early onset or syndromic epilepsy v2.421 GNB1 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating
Early onset or syndromic epilepsy v2.421 GNB1 Sarah Leigh Mode of pathogenicity for gene: GNB1 was changed from None to Other
Early onset or syndromic epilepsy v2.419 GNB1 Sarah Leigh Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973; seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Early onset or syndromic epilepsy v1.191 GNB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GNB1.
Early onset or syndromic epilepsy v1.190 GNB1 Rebecca Foulger Source NHS GMS was added to GNB1.
Early onset or syndromic epilepsy v1.189 GNB1 Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GNB1 Tracy Lester reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27108799; Phenotypes: Mental retardation , 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Marked gene: GNB1 as ready
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Classified gene: GNB1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases (more than 20), and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.906 GNB1 Louise Daugherty Mode of inheritance for gene: GNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.905 GNB1 Louise Daugherty Publications for gene: GNB1 were set to 27108799; 25529582; 27108799
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Added comment: Comment on publications: 13 unrelated patients with autosomal dominant mental retardation-42 Petrovski et al. (2016) PMID:27108799 identified 9 different de novo heterozygous missense mutations in the GNB1 gene, the variants were confirmed by Sanger sequencing.
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Publications for gene: GNB1 were set to
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Added comment: Comment on phenotypes: correction of the MIMid
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 614018; seizures to Mental retardation, autosomal dominant 42, 616973; seizures
Early onset or syndromic epilepsy v0.902 GNB1 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 v0.902 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from to Mental retardation, autosomal dominant 42, 614018; seizures
Early onset or syndromic epilepsy GNB1 Zornitza Stark reviewed gene: GNB1
Early onset or syndromic epilepsy GNB1 Sarah Leigh Added gene to panel