Condition: Situs inversus totalis


rs138890576 in DNAH5 gene and Situs inversus totalis PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs528302390 in PKD1L1 gene and Situs inversus totalis PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

PMID 27616478 2016 In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease.