9. X-LinkedΒΆ

X-linked mutations occur in sex chromosomes or non-autosomal regions. The first filter segments the X-chromosome into specific regions to rule out pseudo-autosomal regions (PAR). PAR regions are homologous sequences of nucleotides on the X and Y chromosomes and any genes within them are inherited just like any autosomal genes. The next filter logic that is applied is the zygosity, which selects for hemizygous (only one copy of a gene is present) and homozygous mutations. When the Auto Classification is applied, however, there are 0 variants that are potentially pathogenic in the X chromosome.


Figure 9-1: X-linked filter logic segments the chromosome to filter our pseudo-autosomal regions.

Next, take a look at Pathogenic in IF Genes.