2.7 Gene variants interpretation
Based on the ACMG guidelines, the pathogenicity of the variation was classified into five subtypes, including pathogenic, likely pathogenic, unknown, likely benign, and benign. Then the disease risk of the examined neonates was graded to three-level risks (high risk, moderate risk, and low risk) and carrier, according to the pathogenicity of the variation and the genetic inheritance pattern (Supplementary Figure 2). Each grade is defined as follows:
High risk : A pathogenic or likely pathogenic variant of the genes that are autosomal dominant or Y-linked; Two pathogenic or likely pathogenic variants of the genes that are autosomal recessive; Female newborns carry two pathogenic or likely pathogenic variants of X-linked dominant genes; Male newborns carry a pathogenic or likely pathogenic variant of X-linked recessive genes.
Moderate risk : A pathogenic or likely pathogenic variant, and a potent variant of unknown significance of the genes that are autosomal recessive; Female newborns carry a pathogenic or likely pathogenic variant, and a potent unknown significance variant of X-linked recessive genes.
Low risk : A pathogenic, likely pathogenic, or unknown significance variant, and a nonvirulent variant with unknown meaning of the genes that are autosomal recessive; A unknown significance variant of the genes that are autosomal dominant or Y-linked; Female newborns carry a pathogenic, likely pathogenic, or unknown significance variant and a nonvirulent variant with unknown meaning of X-linked recessive genes.
Carrier : A pathogenic or potentially pathogenic variation of autosomal recessive genes; Female newborns carry a pathogenic or likely pathogenic variant of X-linked recessive genes.