Early onset or syndromic epilepsy

Gene: PSMB8

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

AR proteasome-assoc autoinflammatory syndrome 1 and digenic forms. Characterise by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and lab evidence of immune dysregulation. On OMIM - states that seizures are uncommon. In Garg et al, 2010 - reported 2 mexican sibs with this phenotype and also seizures.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040

Publications

• 11669176

Red List (low evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in at least 3 unrelated cases, however, seizures only reported in two brothers (PMID 20534754).

Created: 23 Jul 2018, 1:40 p.m.

This gene was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID and also in the Victorian Clinical Genetics Services panels for Intellectual disability and Immunological disorders.

Created: 23 Jul 2018, 1:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation, lipodystrophy, and dermatosis syndrome 256040