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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) |