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Early onset or syndromic epilepsy v2.484 PSMB8 Arina Puzriakova Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Early onset or syndromic epilepsy v1.191 PSMB8 Rebecca Foulger Source Wessex and West Midlands GLH was added to PSMB8.
Early onset or syndromic epilepsy v1.190 PSMB8 Rebecca Foulger Source NHS GMS was added to PSMB8.
Early onset or syndromic epilepsy v1.189 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PSMB8 Tracy Lester reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: 11669176; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Marked gene: PSMB8 as ready
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Gene: psmb8 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy PSMB8 Sarah Leigh commented on gene: PSMB8
Early onset or syndromic epilepsy PSMB8 Sarah Leigh Added gene to panel