Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PSMB4PMID: 34416217 (2021) - second individual with compound heterozygous variants in this gene who presented at 2 months of age with an autoinflammatory disorderCreated: 27 Sep 2021, 3:37 p.m. | Last Modified: 27 Sep 2021, 3:37 p.m.
Panel Version: 2.470
Publications
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
I think CANDLE should be green these should be covered in the testingCreated: 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 testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
Only one patient with compound heterozygous variants reported so farCreated: 29 Jun 2018, 3:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Publications
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 associationCreated: 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 GreenCreated: 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 GreenCreated: 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 AmberCreated: 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 reviewCreated: 5 Jul 2018, 10:01 a.m.
Comment on publications: Added publications suggested from external expert reviewCreated: 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.
Publications for gene: PSMB4 were set to 26524591
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)
Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Source North West GLH was added to PSMB4.
Source London North GLH was added to PSMB4.
Source NHS GMS was added to PSMB4.
Tag digenic tag was added to gene: PSMB4.
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.
Gene: psmb4 has been classified as Red List (Low Evidence).
Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Publications for gene: PSMB4 were set to 26524591
Mode of inheritance for gene: PSMB4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB4 were set to 26524591
Gene: psmb4 has been classified as Red List (Low Evidence).
Gene: psmb4 has been classified as Amber List (Moderate Evidence).
PSMB4 was added to Primary immunodeficiency disorders panel. Sources: Victorian Clinical Genetics Services
PSMB4 was created by Louise Daugherty