1. Genes and Genomic Entities
  2. RBPJ

RBPJ

recombination signal binding protein for immunoglobulin kappa J region
OMIM: 147183, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green RBPJ in Limb disorders


Level 2: Musculoskeletal
Version 9.4
Latest signed off version: v9.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Adams-Oliver syndrome 3, 614814
    Green RBPJ in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.5
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Adams-Oliver syndrome 3, 614814
    Green RBPJ in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ADAMS OLIVER SYNDROME
    Green RBPJ in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ADAMS OLIVER SYNDROME
    Amber RBPJ in Clefting


    Level 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • ADAMS-OLIVER SYNDROME
    Amber RBPJ in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert Review Amber
    Phenotypes
    • Adams-Oliver syndrome 3, 614814