Louise Daugherty edited their review of gene: SRC: Added comment: Gain of function reported; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Louise Daugherty edited their review of gene: SRC: Added comment: From NIHRRD-BR BRIDGE project, report of a second case with de novo variant plus functional data.; Changed rating: GREEN
Louise Daugherty Phenotypes for gene: SRC were changed from Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937 to Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937; Platelet disorder