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Early onset or syndromic epilepsy v2.121 RUSC2 Sarah Leigh edited their review of gene: RUSC2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least 2 unrelated cases. No functional studies have been reported, although authors of PMID 27612186 suggest that p.R866* results in total loss of function as the sibs biallelic with this variant have a more severe phenotype than the case who is biallelic for p.R1318*, which they conclude results in partial loss of function. Refractory seizures were seen in the sibs with p.R866*.; Changed rating: RED
Early onset or syndromic epilepsy v2.121 RUSC2 Sarah Leigh Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61 617773
Early onset or syndromic epilepsy v2.120 RUSC2 Sarah Leigh Publications for gene: RUSC2 were set to
Early onset or syndromic epilepsy v1.191 RUSC2 Rebecca Foulger Source Wessex and West Midlands GLH was added to RUSC2.
Early onset or syndromic epilepsy v1.190 RUSC2 Rebecca Foulger Source NHS GMS was added to RUSC2.
Early onset or syndromic epilepsy v1.189 RUSC2 Rebecca Foulger reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RUSC2 Tracy Lester reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27612186; Phenotypes: Mental retardation 61, 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Marked gene: RUSC2 as ready
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy RUSC2 Zornitza Stark reviewed gene: RUSC2
Early onset or syndromic epilepsy RUSC2 Sarah Leigh Added gene to panel