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Skeletal dysplasia v1.153 | MPDU1 | Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type If 609180 for gene: MPDU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | MPDU1 | Tracy Lester reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | MPDU1 | Eleanor Williams reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | MPDU1 |
Eleanor Williams Source NHS GMS was added to MPDU1. Rating Changed from Green List (high evidence) to Green List (high evidence) |