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Skeletal dysplasia v2.105 | DPM1 | Arina Puzriakova Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | DPM1 |
Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type Ie 608799 for gene: DPM1 Publications for gene DPM1 were changed from to 23856421; 10642602; 15669674 |
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Skeletal dysplasia v1.147 | DPM1 | Tracy Lester reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10642602, 15669674, 23856421; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | DPM1 | Eleanor Williams reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | DPM1 |
Eleanor Williams Source NHS GMS was added to DPM1. Rating Changed from Green List (high evidence) to Green List (high evidence) |