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Osteogenesis imperfecta

Gene: KDELR2

Amber List (moderate evidence)

KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000136240
EnsemblGeneIds (GRCh37): ENSG00000136240
OMIM: 609024, Gene2Phenotype
KDELR2 is in 2 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing the status from grey to amber, but with a recommendation for a green rating following GMS review.
Created: 4 Nov 2020, 10:09 a.m. | Last Modified: 4 Nov 2020, 10:09 a.m.
Panel Version: 2.8
As reported by reviewer PMID: 33053334 - van Dijk et al 2020 - describe 5 individuals from 4 families (Pakistani, Dutch, Spanish) with osteogenesis imperfecta and homozygous or compound het variants in KDELR2 that are likely to be pathogenic. From the results of functional studies with patient fibroblasts they propose a disease mechanism in which collagen fiber production is disrupted.
Created: 4 Nov 2020, 10:08 a.m. | Last Modified: 4 Nov 2020, 10:08 a.m.
Panel Version: 2.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta

Publications

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

4 families with osteogenesis imperfecta reported with functional studies reported in PMID: 33053334
Sources: Literature
Created: 29 Oct 2020, 12:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Increased susceptibility to fractures
  • joint hypermobility
  • Scoliosis
  • Bowing of the legs
  • Bowing of the arms
  • Osteogenesis imperfecta
Tags
for-review
OMIM
609024
Clinvar variants
Variants in KDELR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KDELR2 were set to PMID: 33053334

4 Nov 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: KDELR2.

4 Nov 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms; Osteogenesis imperfecta

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kdelr2 has been classified as Amber List (Moderate Evidence).

29 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Dmitrijs Rots (RadboudUMC)

gene: KDELR2 was added gene: KDELR2 was added to Osteogenesis imperfecta. Sources: Literature Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to PMID: 33053334 Phenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms Penetrance for gene: KDELR2 were set to Complete Review for gene: KDELR2 was set to GREEN