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Severe Paediatric 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 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SH3BP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cherubism, 118400 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

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

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SH3BP2 were changed from Cherubism, 118400 to Cherubism, OMIM:118400

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)