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| Primary lymphoedema v4.21 | PLXNB2 |
Sahar Mansour gene: PLXNB2 was added gene: PLXNB2 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752: Phenotypes for gene: PLXNB2 were set to amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema Penetrance for gene: PLXNB2 were set to unknown Mode of pathogenicity for gene: PLXNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PLXNB2 was set to AMBER Added comment: We have seen three families with pathogenic variants in this gene and primary lymphoedema Sources: Literature |
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