Autoinflammatory disorders
Gene: SH3BP2
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
Gene: sh3bp2 has been classified as Green List (High Evidence).
Source NHS GMS was added to SH3BP2.
Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448
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