06 Aug 2019
Early onset or syndromic epilepsy v1.191
FBXO11
Rebecca Foulger Source Wessex and West Midlands GLH was added to FBXO11.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
FBXO11
Rebecca Foulger Source NHS GMS was added to FBXO11.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
FBXO11
Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
25 Sep 2018
Early onset or syndromic epilepsy v0.445
FBXO11
Sarah Leigh Marked gene: FBXO11 as ready
25 Sep 2018
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).
25 Sep 2018
Early onset or syndromic epilepsy v0.445
FBXO11
Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
25 Sep 2018
Early onset or syndromic epilepsy v0.445
FBXO11
Sarah Leigh Classified gene: FBXO11 as Green List (high evidence)
25 Sep 2018
Early onset or syndromic epilepsy v0.445
FBXO11
Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
25 Sep 2018
Early onset or syndromic epilepsy v0.444
FBXO11
Sarah Leigh Publications for gene: FBXO11 were set to 30057029
25 Sep 2018
Early onset or syndromic epilepsy v0.443
FBXO11
Sarah Leigh Added comment: Comment on phenotypes: Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
25 Sep 2018
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
15 Aug 2018
Early onset or syndromic epilepsy
FBXO11
Konstantinos Varvagiannis Added gene to panel