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Primary immunodeficiency or monogenic inflammatory bowel disease v2.471 PSMB4 Arina Puzriakova Publications for gene: PSMB4 were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v2.470 PSMB4 Arina Puzriakova reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: None; Publications: 34416217; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.469 PSMB4 Arina Puzriakova 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMB4 Louise Daugherty commented on gene: PSMB4: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PSMB9 Louise Daugherty commented on gene: PSMB9: ?Proteasome-associated autoinflammatory syndrome 3, digenic. One patient, one similar patient het for this and another gene (PSMB4) hence ?digenic - amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PSMB4 Louise Daugherty commented on gene: PSMB4: ?Proteasome-associated autoinflammatory syndrome 3, digenic. One patient het for this and another gene (PSMB9) hence ?digenic - amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Louise Daugherty changed review comment from: 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 only enough evidence to rate this gene Amber.; to: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group; to: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Tracy Briggs edited their review of gene: PSMB4: Added comment: I think CANDLE should be green these should be covered in the testing; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Classified gene: PSMB4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB4 Louise Daugherty commented on gene: PSMB4: 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 only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB4 Louise Daugherty edited their review of gene: PSMB4: Added comment: 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; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 PSMB4 Kimberly Gilmour reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 PSMB4 Tracy Briggs reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMB4 Louise Daugherty RET was changed to PSMB4
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMB4 Louise Daugherty Source North West GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMB4 Louise Daugherty Source London North GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMB4 Louise Daugherty Source NHS GMS was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs); to: 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'.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs); to: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty commented on gene: PSMB4: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty Tag digenic tag was added to gene: PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.42 PSMB4 Louise Daugherty Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty marked gene: PSMB4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty classified PSMB4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Sophie Hambleton reviewed gene: PSMB4
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty classified PSMB4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty Added gene to panel