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Early onset or syndromic epilepsy v1.191 PCCA Rebecca Foulger Source Wessex and West Midlands GLH was added to PCCA.
Early onset or syndromic epilepsy v1.190 PCCA Rebecca Foulger Source NHS GMS was added to PCCA.
Early onset or syndromic epilepsy v1.189 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PCCA Tracy Lester reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30014764; Phenotypes: Propionicacidemia, 606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1366 PCCA Eleanor Williams Classified gene: PCCA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1366 PCCA 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 v0.1366 PCCA Eleanor Williams Gene: pcca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.981 PCCA Eleanor Williams Publications for gene: PCCA were set to 2213454; 25875215; 30014764
Early onset or syndromic epilepsy v0.977 PCCA Eleanor Williams Phenotypes for gene: PCCA were changed from to Propionicacidemia 606054
Early onset or syndromic epilepsy v0.976 PCCA Eleanor Williams Publications for gene: PCCA were set to
Early onset or syndromic epilepsy v0.975 PCCA Eleanor Williams Mode of inheritance for gene: PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.974 PCCA Eleanor Williams commented on gene: PCCA
Early onset or syndromic epilepsy PCCA Zornitza Stark reviewed gene: PCCA
Early onset or syndromic epilepsy PCCA Sarah Leigh Added gene to panel