Fetal hydropsGene: MAP2K2
Comment on mode of pathogenicity: Consequence of mutations in G2P is activating.
Created: 21 Dec 2016, 2:51 p.m.
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Mode of pathogenicity for MAP2K2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
MAP2K2 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
MAP2K2 was added to Fetal hydropspanel. Sources: Expert Review Green
MAP2K2 was created by rfoulger