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COVID-19 research

Gene: PSMB8

Green List (high evidence)
PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 13 panels

6 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AR and AD (causes CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy). T cells: Keratinocytes, B cell adipose cells. B cells: Mutations cause increased IFN signaling through an undefined mechanism. Associated with contractures, panniculitis, ICC, fevers).
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 15 Apr 2020, 12:09 p.m.
Last Modified: 15 Apr 2020, 12:09 p.m.
Panel version: 0.103

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CANDLE syndrome

Created: 11 Jun 2018, 11:27 a.m.

Panel version: Imported from Primary immunodeficiency panel version 0.820

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in at least 3 unrelated cases.
Created: 9 May 2018, 1:12 p.m.
Created: 9 May 2018, 1:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.587

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PSMB8 .PanelApp HGNC gene symbol check: PSMB8 . IUIS Disease: CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) . IUIS Inheritance: AR and AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Contractures, panniculitis, ICC, fevers. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 Interferonopathies
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 11:38 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PSMB8, PanelApp HGNC gene symbol check: PSMB8, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defect
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PSMB8, GRID_Gene_Symbol: PSMB8, GRID_Transcript_ENS_Community submitted: ENST00000374882, GRID_Transcript_RefSeq: NM_004159.4, GRID_Transcript_ENS_used_on_Production: ENST00000374882
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2027
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
  • Autoinflammation, lipodystrophy, and dermatosis syndrome
  • Contractures, panniculitis, ICC, fevers
  • Autoinflammatory Disorders
  • CANDLE syndrome
OMIM
177046
Clinvar variants
Variants in PSMB8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PSMB8 were changed from Other autoinflammatory diseases with known genetic defect; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; CANDLE syndrome to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome; Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; CANDLE syndrome

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2027 was added to PSMB8. Mode of inheritance for gene PSMB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PSMB8 was added gene: PSMB8 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21129723; 21953331; 21852578; 21881205 Phenotypes for gene: PSMB8 were set to Other autoinflammatory diseases with known genetic defect; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; CANDLE syndrome