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Early onset or syndromic epilepsy v2.363 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Early onset or syndromic epilepsy v1.191 RAB11B Rebecca Foulger Source Wessex and West Midlands GLH was added to RAB11B.
Early onset or syndromic epilepsy v1.190 RAB11B Rebecca Foulger Source NHS GMS was added to RAB11B.
Early onset or syndromic epilepsy v1.189 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RAB11B Tracy Lester reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait absent speech and decreased cortical white matter, 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Marked gene: RAB11B as ready
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 5 unrelated cases, of which epileptic seizures were reported in three cases. Protein modeling suggested that both variants alter the GTP/GDP binding pocket and reveal that they both have localization patterns similar to inactive RAB11B (PMID 29106825).
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Gene: rab11b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Publications for gene: RAB11B were set to
Early onset or syndromic epilepsy v0.1140 RAB11B Sarah Leigh Classified gene: RAB11B as Green List (high evidence)
Early onset or syndromic epilepsy v0.1140 RAB11B Sarah Leigh Gene: rab11b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Added comment: Comment on phenotypes: Added phenotype as suggested by external review and checked with OMIM
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Added comment: Comment on mode of inheritance: updated MOI as suggested by external reviewer
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Mode of inheritance for gene: RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy RAB11B Zornitza Stark reviewed gene: RAB11B
Early onset or syndromic epilepsy RAB11B Sarah Leigh Added gene to panel