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  2. Osteogenesis Imperfecta and Osteoporosis
  3. KDELR2
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Osteogenesis Imperfecta and Osteoporosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 families with osteogenesis imperfecta reported with functional studies.
Sources: Expert Review
Created: 30 Oct 2020, 10:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms

Publications

Created: 30 Oct 2020, 10:09 a.m.

Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
  • Increased susceptibility to fractures
  • joint hypermobility
  • Scoliosis
  • Bowing of the legs
  • Bowing of the arms
OMIM
609024
Clinvar variants
Variants in KDELR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms

30 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdelr2 has been classified as Green List (High Evidence).

30 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdelr2 has been classified as Green List (High Evidence).

30 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDELR2 was added gene: KDELR2 was added to Osteogenesis Imperfecta. Sources: Expert Review 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 Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms Review for gene: KDELR2 was set to GREEN