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Primary lymphoedema v1.58 MAP2K1 Sarah Leigh Publications for gene: MAP2K1 were set to
Primary lymphoedema v1.57 MAP2K1 Sarah Leigh Classified gene: MAP2K1 as Green List (high evidence)
Primary lymphoedema v1.57 MAP2K1 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.57 MAP2K1 Sarah Leigh Gene: map2k1 has been classified as Green List (High Evidence).
Primary lymphoedema v1.45 MAP2K1 Sahar Mansour reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21396583, 23321623; Phenotypes: Cardiofaciocutaneous syndrome 3 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.44 MAP2K1 Sarah Leigh gene: MAP2K1 was added
gene: MAP2K1 was added to Primary lymphoedema. Sources: Expert Review
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments