A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

Egyptian Journal of Medical Human Genetics

Table 1 Variants identified in genes with a probable genotype–phenotype association

Gene	Effect	Sample			In silico pred		Categorization
Gene	Nomenclature	Zigosity			Conservation		OMIM inheritance
#MIM	Variant	Variant allele frequency			Frequency	ClinVar ID	Variant inheritance
Coverage	Exon	Depyh			Population	dbSNP	Interpretation
SOX5 604,975 100%	Frameshift deletion Chr12(GRCh37):g.23696291delA (NM_006940.5): c.1627delT; p.(Tyr543fs) Exon 13	Child	Mother	Father	NA NA NA NA	NAv NAv	Pathogenic AD De novo –
		Heterozygosity	–	–
		45% 64X	– 162X	– 187X