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Proteinuric renal disease v1.166 | PMM2 | Eleanor Williams Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia #212065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.165 | PMM2 | Eleanor Williams Publications for gene: PMM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.16 | PMM2 | Eleanor Williams reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 19474279, PMID: 29229467 ; Phenotypes: Congenital disorder of glycosylation, type Ia #212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | PMM2 | Eleanor Williams Source NHS GMS was added to PMM2. |