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Skeletal dysplasia

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, 10:18 a.m. | Last Modified: 4 Nov 2020, 10:18 a.m.
Panel Version: 2.27
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. In two related probands, ultrasound in early pregnancy showed a suspicion of a severe skeletal dysplasia. The babygrams of both fetuses showed slender ribs and malformed bowed tibia and femur due to multiple fractures, compatible with OI type 2B/3. 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, 10:17 a.m. | Last Modified: 4 Nov 2020, 10:17 a.m.
Panel Version: 2.26

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

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

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KDELR2 were set to PMID: 33053334

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 Skeletal dysplasia. 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