COVID-19 research
Gene: SH3BP2Comment on list classification: Demoting gene based on expert reviewCreated: 12 May 2020, 10:16 a.m. | Last Modified: 12 May 2020, 10:16 a.m.
Panel Version: 0.212
This appears to be fundamentally a disorder of osteoclast differentiation and function with its effects confined to bone (specifically the maxilla and mandible!) - so probably does not belong on this panelCreated: 5 May 2020, 10:25 a.m. | Last Modified: 5 May 2020, 10:25 a.m.
Panel Version: 0.180
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cherubism - green association, but is there an immunological phenotype?Created: 26 Sep 2019, 4 p.m. | Last Modified: 26 Sep 2019, 4 p.m.
Panel Version: 1.130
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 Red
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 RedCreated: 26 Sep 2019, 3:38 p.m. | Last Modified: 26 Sep 2019, 3:38 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019Created: 26 Sep 2019, 3:37 p.m. | Last Modified: 26 Sep 2019, 3:37 p.m.
Panel Version: 1.127
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SH3BP2 .PanelApp HGNC gene symbol check: SH3BP2 . IUIS Disease: Cherubism . IUIS Inheritance: AD .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: Stroma cells, bone cells. IUIS Associated features: Bone degeneration in jaws. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related ConditionsCreated: 26 Sep 2019, 10:29 a.m. | Last Modified: 26 Sep 2019, 10:29 a.m.
Panel Version: 1.120
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SH3BP2 GRID_Gene_Symbol: SH3BP2 GRID_Transcript_ENS_Community submitted: ENST00000503393 GRID_Transcript_RefSeq: NM_001122681.1 GRID_Transcript_ENS_used_on_Production: ENST00000503393Created: 26 Sep 2019, 10:25 a.m. | Last Modified: 26 Sep 2019, 10:25 a.m.
Panel Version: 1.120
Original metadata downloaded from ESID Registry. ESID_Gene_original: SH3BP2, PanelApp HGNC gene symbol check: SH3BP2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defectCreated: 26 Sep 2019, 8:45 a.m. | Last Modified: 26 Sep 2019, 8:45 a.m.
Panel Version: 1.120
Phenotypes for gene: SH3BP2 were changed from Other autoinflammatory diseases with known genetic defect; Autoinflammatory Disorders; Bone degeneration in jaws; Cherubism 118400 to Cherubism, OMIM:118400; Autoinflammatory Disorders
Gene: sh3bp2 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to SH3BP2. Added phenotypes Other autoinflammatory diseases with known genetic defect; Autoinflammatory Disorders; Cherubism 118400; Bone degeneration in jaws for gene: SH3BP2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SH3BP2 was added gene: SH3BP2 was added to Viral susceptibility. Sources: ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SH3BP2 were set to 22640988; 28914985; 29669173; 11381256; 32086639; 32048120 Phenotypes for gene: SH3BP2 were set to Other autoinflammatory diseases with known genetic defect; Autoinflammatory Disorders; Cherubism 118400; Bone degeneration in jaws