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DDG2P v3.12 | PMM2 | Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9887379, 10602363, 17307006, 10527672, 9781039, 9497260, 19235233, 9140401, 10801058, 11916319, 10922383; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | PMM2 | Achchuthan Shanmugasundram Publications for gene: PMM2 were updated from 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 to 21937992; 9887379; 10602363; 17307006; 10527672; 9781039; 9497260; 19235233; 9140401; 10801058; 11916319; 10922383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | PMM2 | Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PMM2 |
Rebecca Foulger gene: PMM2 was added gene: PMM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |