Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SH3BP2

SH3BP2 (SH3 domain binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000087266
EnsemblGeneIds (GRCh37): ENSG00000087266
OMIM: 602104, Gene2Phenotype
SH3BP2 is in 6 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to entity SH3BP2: 11113824;16053841. These publications have been associated with OMIM phenotype MIM#118400, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.

Panel Version: 2.208

Publications

Created: 13 Oct 2020, 9:36 a.m.
Last Modified: 13 Oct 2020, 9:36 a.m.
Panel version: 2.208

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Experimental/mouse data.
Created: 11 Apr 2020, 10:17 a.m. | Last Modified: 11 Apr 2020, 10:17 a.m.

Panel Version: 2.51

Publications

Created: 11 Apr 2020, 10:17 a.m.
Last Modified: 11 Apr 2020, 10:17 a.m.
Panel version: 2.51

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

Created: 26 Sep 2019, 8:45 a.m.
Last Modified: 26 Sep 2019, 8:45 a.m.
Panel version: 1.130

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Other
IUIS Classification December 2019
IUIS Classification February 2018
ESID Registry 20171117
Victorian Clinical Genetics Services
Expert Review Red
GRID V2.0
London North GLH
NHS GMS
North West GLH

Phenotypes

Cherubism, OMIM:118400
Autoinflammatory Disorders

OMIM

602104

Clinvar variants

Variants in SH3BP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SH3BP2 were changed from Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Cherubism 118400; Autoinflammatory Disorders to Cherubism, OMIM:118400; Autoinflammatory Disorders

13 Oct 2020, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to SH3BP2. Publications for gene SH3BP2 were updated from 29669173; 22640988; 32048120; 28914985; 11381256; 32086639; 25705883; 25470448; 25220465 to 25220465; 11381256; 25705883; 25470448; 32048120; 32086639; 29669173; 11113824; 22640988; 28914985; 16053841

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SH3BP2 were set to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639

28 Feb 2020, Gel status: 1