KDELR2

KDEL endoplasmic reticulum protein retention receptor 2
OMIM: 609024, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KDELR2 in Mendeliome


Version 2.636

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

Green KDELR2 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.9

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131

Green KDELR2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.153

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

Green KDELR2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.13

2 reviews 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


Level 2: Screening
Version 1.0

0 reviews 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