Genomics England
GMS Panels
Panels
Genes and Entities

KDELR2

KDEL endoplasmic reticulum protein retention receptor 2
OMIM: 609024
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KDELR2-related Osteogenesis Imperfecta
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XXI, OMIM:619131, Increased susceptibility to fractures, Joint hypermobility, Scoliosis, Bowing of the legs and arms
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XXI, OMIM:619131, Increased susceptibility to fractures, Joint hypermobility, Scoliosis, Bowing of the legs and arms