RBPJ

recombination signal binding protein for immunoglobulin kappa J region
OMIM: 147183
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ADAMS OLIVER SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adams-Oliver syndrome 3, 614814
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adams-Oliver syndrome 3, 614814