Skeletal dysplasia

Gene: KDELR2

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 6 Mar 2022, 5:41 p.m. | Last Modified: 6 Mar 2022, 5:41 p.m.

Panel Version: 2.176

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

• 33053334

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

• PMID: 33053334