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Autoinflammatory disorders

Gene: SH3BP2

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
SH3BP2 is currently rated Red on the PID panel (R15, version 2.524) and is associated with Cherubism (MIM# 118400) in OMIM.

Experimental/mouse model data suggests autoimmune aetiology but the phenotype displayed by patients may not overtly relate to this panel. Therefore inclusion of this gene on this panel will be discussed with the test evaluation group.
Created: 11 Jan 2022, 2:29 p.m. | Last Modified: 11 Jan 2022, 2:29 p.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cherubism, OMIM:118400

Publications

Created: 11 Jan 2022, 2:29 p.m.
Last Modified: 11 Jan 2022, 2:29 p.m.
Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cherubism, OMIM:118400
OMIM
602104
Clinvar variants
Variants in SH3BP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sh3bp2 has been classified as Green List (High Evidence).

19 Jan 2022, Gel status: 1

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SH3BP2.

11 Jan 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448

11 Jan 2022, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SH3BP2 was added gene: SH3BP2 was added to Autoinflammatory disorders. Sources: Expert Review Red Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448 Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400