Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: SH3BP2

Red List (low evidence)

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

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

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
  • 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
  • Other autoinflammatory diseases with known genetic defect
  • Bone degeneration in jaws
  • Cherubism 118400
  • Autoinflammatory Disorders
OMIM
602104
Clinvar variants
Variants in SH3BP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to SH3BP2. Added phenotypes Bone degeneration in jaws; Autoinflammatory Disorders for gene: SH3BP2 Publications for gene SH3BP2 were updated from 22640988; 28914985; 11381256; 29669173 to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639

17 Sep 2019, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source GRID V2.0 was added to SH3BP2. Source Expert Review Red was added to SH3BP2. Source Victorian Clinical Genetics Services was added to SH3BP2. Source ESID Registry 20171117 was added to SH3BP2. Source IUIS Classification February 2018 was added to SH3BP2.

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SH3BP2 were set to

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SH3BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SH3BP2.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SH3BP2.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SH3BP2 was added gene: SH3BP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: SH3BP2 was set to