Definition Deep intronic variants are those genetic variants falling more than 100bp away from the closest exon-intron boundary. Of course, like all other type of variants, deep intronic variants may be be pathogenic, but their pathogenicity is hard to be confirmed. They can be considered as the ‘dark side’ of the mutational spectrum of a
Definition In most cases, a pseudogene can be considered as the ancient extra copy of a preexisting protein-coding gene (called parental gene), that undergoes a process of pseudogenization by disruption to its sequence due to accumulation of deleterious mutations. The result is usually a ‘nonfunctional gene’ with high sequence homology with the parental gene.
Breda Genetics panel recommended for this condition: Pan73 – Male infertility (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1,
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