Autoinflammatory Disorders
Gene: SH3BP2EnsemblGeneIds (GRCh38): ENSG00000087266
EnsemblGeneIds (GRCh37): ENSG00000087266
OMIM: 602104, Gene2Phenotype
SH3BP2 is in 5 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Cherubism is an autoinflammatory bone disorder caused by heterozygous gain of function variants mainly clustered within the peptide sequence RSPPDG lying between the PH and SH2 domains.Created: 16 Dec 2024, 4:54 a.m. | Last Modified: 16 Dec 2024, 4:54 a.m.
Panel Version: 1.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cherubism MONDO:0007315
Publications
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Link to immune system dysfunction seems to be based mostly on experimental/mouse data.Created: 11 Apr 2020, 10:18 a.m. | Last Modified: 11 Apr 2020, 10:18 a.m.
Panel Version: 0.59
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cherubism, MIM# 118400
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cherubism, MIM# 118400
- OMIM
- 602104
- Clinvar variants
- Variants in SH3BP2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: SH3BP2 was changed from to Other
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sh3bp2 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SH3BP2 were set to 26152156; 25705883; 25470448; 25220465
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh3bp2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM# 118400
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SH3BP2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh3bp2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SH3BP2 was added gene: SH3BP2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SH3BP2 was set to Unknown