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Primary immunodeficiency

Gene: PSMB4

Amber List (moderate evidence)

PSMB4 (proteasome subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000159377
EnsemblGeneIds (GRCh37): ENSG00000159377
OMIM: 602177, Gene2Phenotype
PSMB4 is in 2 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

PMID: 34416217 (2021) - second individual with compound heterozygous variants in this gene who presented at 2 months of age with an autoinflammatory disorder
Created: 27 Sep 2021, 3:37 p.m. | Last Modified: 27 Sep 2021, 3:37 p.m.
Panel Version: 2.470

Publications

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

I think CANDLE should be green these should be covered in the testing
Created: 26 Sep 2019, 12:43 p.m. | Last Modified: 26 Sep 2019, 12:43 p.m.
Panel Version: 1.127
The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

Sophie Hambleton (Newcastle University)

I don't know

Only one patient with compound heterozygous variants reported so far
Created: 29 Jun 2018, 3:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Created: 12 Nov 2019, 5:04 p.m. | Last Modified: 12 Nov 2019, 5:04 p.m.
Panel Version: 1.137
?Proteasome-associated autoinflammatory syndrome 3, digenic. One patient het for this and another gene (PSMB9) hence ?digenic - amber on association
Created: 26 Sep 2019, 3:58 p.m. | Last Modified: 26 Sep 2019, 3:58 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Created: 26 Sep 2019, 10:36 a.m. | Last Modified: 26 Sep 2019, 1:04 p.m.
Panel Version: 1.127
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMB4 should be Green
Created: 25 Sep 2019, 3 p.m. | Last Modified: 26 Sep 2019, 1:05 p.m.
Panel Version: 1.127
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 only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Review by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019. Added digenic tag - from review comment 'Digenic also reported'.
Created: 15 Aug 2019, 4:12 p.m. | Last Modified: 12 Sep 2019, 3:34 p.m.
Panel Version: 1.55
Comment on phenotypes: Added phenotype from expert review
Created: 5 Jul 2018, 10:01 a.m.
Comment on publications: Added publications suggested from external expert review
Created: 5 Jul 2018, 10 a.m.
Comment on list classification: Changed from Amber to Red until more info to support gene-disease association. Currently only one case reported in literature. Gene not present on any other PID related panels or within ESID or IUIS classifications. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services.
Created: 5 Jul 2018, 9:56 a.m.
Comment on list classification: 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 from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.
Created: 26 Jun 2018, 12:45 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
digenic
OMIM
602177
Clinvar variants
Variants in PSMB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PSMB4 were set to 26524591

27 Sep 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PSMB4 were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)

26 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: psmb4 has been classified as Amber List (Moderate Evidence).

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to PSMB4.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PSMB4.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PSMB4.

15 Aug 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag digenic tag was added to gene: PSMB4.

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: psmb4 has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)

5 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PSMB4 were set to 26524591

5 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PSMB4 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PSMB4 were set to 26524591

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: psmb4 has been classified as Red List (Low Evidence).

26 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: psmb4 has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PSMB4 was added to Primary immunodeficiency disorders panel. Sources: Victorian Clinical Genetics Services

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

PSMB4 was created by Louise Daugherty