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| Arthrogryposis v9.31 | DDR2 | Ida Ertmanska edited their review of gene: DDR2: Changed phenotypes to: Warburg-Cinotti syndrome, OMIM:618175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.31 | DDR2 | Ida Ertmanska Classified gene: DDR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.31 | DDR2 | Ida Ertmanska Added comment: 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. Contractures are not a feature of DDR2-related recessive disease. Hence, DDR2 should be updated to Green at the next GMS update with MOI MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.31 | DDR2 | Ida Ertmanska Gene: ddr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.30 | DDR2 |
Ida Ertmanska gene: DDR2 was added gene: DDR2 was added to Arthrogryposis. Sources: Literature Q1_26_promote_green tags were added to gene: DDR2. Mode of inheritance for gene: DDR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDR2 were set to 30449416 Review for gene: DDR2 was set to GREEN Added comment: 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 |
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