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COVID-19 research

Gene: SH3BP2

Red List (low evidence)

SH3BP2 (SH3 domain binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000087266
EnsemblGeneIds (GRCh37): ENSG00000087266
OMIM: 602104, Gene2Phenotype
SH3BP2 is in 5 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Demoting gene based on expert review
Created: 12 May 2020, 10:16 a.m. | Last Modified: 12 May 2020, 10:16 a.m.
Panel Version: 0.212

Sophie Hambleton (Newcastle University)

Red List (low evidence)

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 panel
Created: 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

Louise Daugherty (Genomics England Curator)

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 Red
Created: 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 2019
Created: 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 Conditions
Created: 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: ENST00000503393
Created: 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 defect
Created: 26 Sep 2019, 8:45 a.m. | Last Modified: 26 Sep 2019, 8:45 a.m.
Panel Version: 1.120

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Autoinflammatory Disorders
  • Bone degeneration in jaws
  • Cherubism 118400
OMIM
602104
Clinvar variants
Variants in SH3BP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2020, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: sh3bp2 has been classified as Red List (Low Evidence).

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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