1. Genes and Genomic Entities
  2. KDELR2

KDELR2

KDEL endoplasmic reticulum protein retention receptor 2
OMIM: 609024, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KDELR2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XXI, OMIM:619131
    • Increased susceptibility to fractures
    • Joint hypermobility
    • Scoliosis
    • Bowing of the legs and arms
    Green KDELR2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XXI, OMIM:619131
    • Increased susceptibility to fractures
    • Joint hypermobility
    • Scoliosis
    • Bowing of the legs and arms
    Green KDELR2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KDELR2-related Osteogenesis Imperfecta