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Skeletal dysplasia v1.153 | PEX5 | Eleanor Williams Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716 for gene: PEX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PEX5 | Tracy Lester reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18712838; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110, Rhizomelic chondrodysplasia punctata, type 5 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PEX5 | Eleanor Williams reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PEX5 |
Eleanor Williams Source NHS GMS was added to PEX5. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | PEX5 | Sarah Leigh classified PEX5 as green |