Skeletal dysplasia
Gene: KDELR2
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
4 families with osteogenesis imperfecta reported with functional studies reported in PMID: 33053334
Sources: LiteratureCreated: 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
Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms; Osteogenesis imperfecta to Osteogenesis imperfecta, type XXI, OMIM:619131; Increased susceptibility to fractures; Joint hypermobility; Scoliosis; Bowing of the legs and arms
Tag for-review was removed from gene: KDELR2.
Source Expert Review Green was added to KDELR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: KDELR2.
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
Publications for gene: KDELR2 were set to PMID: 33053334
Gene: kdelr2 has been classified as Amber List (Moderate Evidence).
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