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Newborns main panel

Gene: KDELR2

Green List (high evidence)
KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000136240
EnsemblGeneIds (GRCh37): ENSG00000136240
OMIM: 609024, Gene2Phenotype
KDELR2 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Sheffield Diagnostic Genetics Service ([email protected]) have requested to be involved at the variant review stage. They will be able to assist with variant interpretation prior to reporting.
Created: 11 Feb 2026, 6:25 p.m. | Last Modified: 11 Feb 2026, 6:25 p.m.
Panel Version: 0.503
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 33053334 (4 cases), PMID: 33964184 (2 cases)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.503

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XXI
Tags
special_consideration
OMIM
609024
Clinvar variants
Variants in KDELR2
Penetrance
None
Panels with this gene

History Filter Activity

11 Feb 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: KDELR2.

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: KDELR2 was added gene: KDELR2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta, type XXI