Ichthyosis and erythrokeratodermaGene: DSG2
Comment on list classification: Updated rating from Green to Red: The desmosomal gene DSG2 was originally included as a Green gene on the panel because the eligibility statement prior genetic testing listed "Striate keratoderma with woolly hair: cardiac panel including desmosomal genes". However, after discussion with the clinical team (Ellen Thomas and Helen Brittain), we agreed there is no strong link between the DSG2 gene and PPK phenotype. Note that other cardiac genes JUP, DSP, DSC2 and KANK2 have been implicated with the keratoderma and woolly hair phenotype, and have been rated accordingly.
Created: 3 Apr 2017, 8:52 a.m.
Comment on list classification: Updated rating from Red to Green: desmosomal genes are included in the Eligibility statement prior genetic testing list.
Created: 10 Jan 2017, 3:32 p.m.
gene: DSG2 was added gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair