Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease KDELR2-related Osteogenesis Imperfecta is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:33053334).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
KDELR2-related Osteogenesis Imperfecta

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KDELR2-related Osteogenesis Imperfecta
OMIM
609024
Clinvar variants
Variants in KDELR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KDELR2 was added gene: KDELR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to 33053334 Phenotypes for gene: KDELR2 were set to KDELR2-related Osteogenesis Imperfecta