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Prepair 1000+

Gene: DDR2

Green List (high evidence)
DDR2 (discoidin domain receptor tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000162733
EnsemblGeneIds (GRCh37): ENSG00000162733
OMIM: 191311, Gene2Phenotype
DDR2 is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia. LoF is mechanism of disease.
Clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years.
Mouse model present.
Note: Mono-allelic GoF variants cause Warburg-Cinotti syndrome MIM#618175.
Created: 24 Oct 2024, 12:16 p.m. | Last Modified: 24 Oct 2024, 12:16 p.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaepiphyseal dysplasia, short limb-hand type MIM#271665

Publications

Created: 24 Oct 2024, 12:16 p.m.
Last Modified: 24 Oct 2024, 12:16 p.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
OMIM
191311
Clinvar variants
Variants in DDR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddr2 has been classified as Green List (High Evidence).

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDR2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDR2 was added gene: DDR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)