Skeletal dysplasia
Gene: DDR2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia. LoF.

Mono-allelic variants cause Warburg-Cinotti syndrome, which is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis. Four unrelated families reported with missense variants, which were activating. GoF.
Created: 29 Nov 2021, 7:22 a.m. | Last Modified: 6 Jul 2022, 2:39 a.m.

Panel Version: 1.89

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175

Publications

Created: 29 Nov 2021, 7:22 a.m.
Last Modified: 6 Jul 2022, 2:39 a.m.
Panel version: Imported from Mendeliome panel version 0.9940

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Spondylometaepiphyseal dysplasia, short limb-hand type 271665
Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported

OMIM

191311

Clinvar variants

Variants in DDR2

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,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; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported

Skeletal dysplasia Gene: DDR2