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Early onset or syndromic epilepsy v1.191 PCCB Rebecca Foulger Source Wessex and West Midlands GLH was added to PCCB.
Early onset or syndromic epilepsy v1.190 PCCB Rebecca Foulger Source NHS GMS was added to PCCB.
Early onset or syndromic epilepsy v1.189 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PCCB Tracy Lester reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7386459; Phenotypes: Propionicacidemia, 606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1367 PCCB Eleanor Williams Classified gene: PCCB as Green List (high evidence)
Early onset or syndromic epilepsy v0.1367 PCCB Eleanor Williams Added comment: Comment on list classification: Promoted to green on the basis that there are sufficient cases of variants in this gene in patients with a relevant phenotype, and that seizures are reported in 12-53% of patients.
Early onset or syndromic epilepsy v0.1367 PCCB Eleanor Williams Gene: pccb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1302 STAG1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Three missense variants and one copy number event that deletes STAG1 & PCCB genes were reported in four unrelated cases in which seizures were a phenotypic feature.
Early onset or syndromic epilepsy v0.994 PCCB Eleanor Williams Phenotypes for gene: PCCB were changed from to Propionicacidemia 606054
Early onset or syndromic epilepsy v0.993 PCCB Eleanor Williams Publications for gene: PCCB were set to
Early onset or syndromic epilepsy v0.992 PCCB Eleanor Williams commented on gene: PCCB
Early onset or syndromic epilepsy v0.992 PCCB Eleanor Williams Mode of inheritance for gene: PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.989 PCCB Eleanor Williams commented on gene: PCCB
Early onset or syndromic epilepsy PCCB Zornitza Stark reviewed gene: PCCB
Early onset or syndromic epilepsy PCCB Sarah Leigh Added gene to panel