Osteogenesis imperfecta
Gene: KDELR2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 9:19 p.m. | Last Modified: 5 Mar 2022, 9:19 p.m.
Panel Version: 2.39
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
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
Publications for gene: KDELR2 were set to 33053334
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)
Publications for gene: KDELR2 were set to PMID: 33053334
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
Gene: kdelr2 has been classified as Amber List (Moderate Evidence).
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