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Genetic epilepsy syndromes

Gene: PSMB8

Red List (low evidence)

PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 12 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

Details

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PSMB8.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PSMB8.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: This gene was listed in extern

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: psmb8 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PSMB8 were set to 20534754

23 Jul 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PSMB8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert list

23 Jul 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PSMB8 was created by Sarah Leigh