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Genomic newborn screening: ICoNS v0.4 AK2 Lilian Downie reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19043416, 19043417, 40654267; Phenotypes: Reticular dysgenesis MIM#267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.4 AK2 Lilian Downie gene: AK2 was added
gene: AK2 was added to Genomic newborn screening: ICoNS. Sources: Expert list
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal