KDELR2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KDELR2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
  • Increased susceptibility to fractures
  • joint hypermobility
  • Scoliosis
  • Bowing of the legs
  • Bowing of the arms

Green KDELR2 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
  • Increased susceptibility to fractures
  • joint hypermobility
  • Scoliosis
  • Bowing of the legs
  • Bowing of the arms

Green KDELR2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
Tags
  • treatable
  • skeletal

Green KDELR2 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Increased susceptibility to fractures
  • Bowing of the legs
  • Osteogenesis imperfecta 21, MIM# 619131
  • joint hypermobility
  • Bowing of the arms
  • Scoliosis