Genomics England
GMS Panels
Panels
Genes and Entities

SH3BP2

SH3 domain binding protein 2
OMIM: 602104
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cherubism, OMIM:118400
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cherubism, OMIM:118400