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Additional findings_Paediatric v0.2 DSP Zornitza Stark Source BabySeq Category B gene was added to DSP.
Source Expert Review Amber was added to DSP.
Added phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 DSP Zornitza Stark Added phenotypes Epidermolysis bullosa, lethal acantholytic for gene: DSP
Additional findings_Paediatric v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic