10 Jan 2022
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PSMB8
Rebecca Foulger Source Wessex and West Midlands GLH was added to PSMB8.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PSMB8
Rebecca Foulger Source NHS GMS was added to PSMB8.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PSMB8
Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
26 Sep 2018
Early onset or syndromic epilepsy v0.491
PSMB8
Sarah Leigh Marked gene: PSMB8 as ready
26 Sep 2018
Early onset or syndromic epilepsy v0.491
PSMB8
Sarah Leigh Gene: psmb8 has been classified as Red List (Low Evidence).
23 Jul 2018
Early onset or syndromic epilepsy
PSMB8
Sarah Leigh commented on gene: PSMB8
23 Jul 2018
Early onset or syndromic epilepsy
PSMB8
Sarah Leigh Added gene to panel