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| Skeletal dysplasia v8.38 | DDR2 | Eleanor Williams Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Warburg-Cinotti syndrome, OMIM: 618175 to Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Spondylometaepiphyseal dysplasia, short limb-hand type 271665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.37 | DDR2 |
Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: DDR2. Tag Q1_25_ MOI was removed from gene: DDR2. |
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| Skeletal dysplasia v8.37 | DDR2 | Eleanor Williams commented on gene: DDR2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. Unlikely that patients with WARBURG-CINOTTI SYNDROME woud be tested via a skeletal dysplasia test. Primary phenotype is not skeletal dysplasia but contractures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.21 | DDR2 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Monoallelic DDR2 variants associated with Warburg-Cinotti syndrome, (OMIM: 618175), appear to have a gain of function mode of pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.21 | DDR2 | Sarah Leigh Mode of pathogenicity for gene: DDR2 was changed from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.20 | DDR2 | Sarah Leigh Publications for gene: DDR2 were set to 30449416; 39095787; 23637089; 30449416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.19 | DDR2 |
Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: DDR2. Tag Q1_25_ MOI tag was added to gene: DDR2. |
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| Skeletal dysplasia v7.19 | DDR2 | Sarah Leigh Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Spondylometaepiphyseal dysplasia, short limb-hand type 271665 to Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Warburg-Cinotti syndrome, OMIM: 618175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.18 | DDR2 | Sarah Leigh Publications for gene: DDR2 were set to 30449416; 39095787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.17 | DDR2 | Sarah Leigh edited their review of gene: DDR2: Added comment: A change of mode of inheritance from biallelic to BOTH monoallelic and biallelic is requested, so that monoallelic DDR2 variants causing Warburg-Cinotti syndrome (OMIM: 618175) may be detected. Warburg-Cinotti syndrome includes skeletal dysplasia features (PMID: 23637089; 30449416). Functional studies of the two variants so far associated with Warburg-Cinotti syndrome, appear to have a gain of function mechanism. Cultured fibroblasts from the patients resulted in increased phosphorylation of DDR2 in comparison to the control fibroblasts, thereby causing autophosphorylation of the receptor (PMID: 30449416).; Changed publications to: 23637089, 30449416; Changed phenotypes to: Warburg-Cinotti syndrome, OMIM: 618175; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.17 | DDR2 | Sarah Leigh Publications for gene: DDR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | DDR2 | Eleanor Williams Added phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported for gene: DDR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | DDR2 | Tracy Lester reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DDR2 | Eleanor Williams reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DDR2 |
Eleanor Williams Source NHS GMS was added to DDR2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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