Paediatric disorders - additional genes

Gene: DDR2

Green List (high evidence)

Comment on list classification: There are at least 6 individuals reported in literature with heterozygous missense variants in DDR2 and Warburg-Cinotti syndrome - with the main feature being contractures. DDR2-related recessive disease mainly features skeletal dysplasia; DDR2 is already included on R27 with BIALLELIC MOI through skeletal dysplasia panel. To ensure inclusion of Warburg-Cinotti syndrome on R27, DDR2 should be updated to Green for Paediatric disorders - additional genes with MOI MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.

Created: 13 Mar 2026, 5:38 p.m. | Last Modified: 13 Mar 2026, 5:39 p.m.

Panel Version: 7.35

30449416 Xu et al,, 2018
6 patients from 4 unrelated families, 2 previously reported. All patients were heterozygous for one of the recurring DDR2 variants: c.1829T>C (p.Leu610Pro) or c.2219A>G (p.Tyr740Cys).
Phenotypic spectrum: contractures (6/6, variable severity), corneal vascularization (5/6), skin with little subcutaneous tissue (4/6), keloid-like plaques (4/6), loss of toes/toenails (4/6), joint swellings (4/6), and other less penetrant features.

This gene is associated with AD Warburg-Cinotti syndrome 618175 and AR Spondylometaepiphyseal dysplasia, short limb-hand type 271665 (OMIM accessed 13th Mar 2026).
Sources: Literature

Created: 13 Mar 2026, 5:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Warburg-Cinotti syndrome, OMIM:618175

Publications

• 30449416