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Primary lymphoedema v1.120 | PMM2 | Ivone Leong Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Classified gene: PMM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Gene: pmm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.90 | PMM2 | Sarah Leigh Publications for gene: PMM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.88 | PMM2 | Sarah Leigh reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17158594, 9762608, 15645285, 20638314; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.83 | PMM2 |
Sarah Leigh gene: PMM2 was added gene: PMM2 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal |