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Early onset or syndromic epilepsy v1.191 FBXO11 Rebecca Foulger Source Wessex and West Midlands GLH was added to FBXO11.
Early onset or syndromic epilepsy v1.190 FBXO11 Rebecca Foulger Source NHS GMS was added to FBXO11.
Early onset or syndromic epilepsy v1.189 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FBXO11 Tracy Lester reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30057029; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Marked gene: FBXO11 as ready
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for FBXO11 related intellectual disability. Seizures reported in at least 5 unrelated cases carrying de novo monoallelic FBXO11 variants (PMID: 30057029).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Classified gene: FBXO11 as Green List (high evidence)
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.444 FBXO11 Sarah Leigh Publications for gene: FBXO11 were set to 30057029
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Added comment: Comment on phenotypes: Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Early onset or syndromic epilepsy FBXO11 Konstantinos Varvagiannis Added gene to panel