Table 2

Candidate genes

GeneChromosomePositionReference alleleAlternative allelecDNA changeProtein changegnomAD popmax
ANGPT286385085TCNM_001147.2:c.557A>Gp.(Asp186Gly)0
CYP2C191096535218GCNM_000769.2:c.403G>Cp.(Gly135Arg)0
RRP121099118361CTNM_015179.1:c.3724G>Ap.(Val1242Met)20/30616 South Asian alleles
LOXL410100016620CTNM_032211.6:c.1345G>Ap.(Val449Met)14/30616 South Asian alleles
PYROXD210100154981TCNM_032709.2:c.757A>Gp.(Met253Val)18/30616 South Asian alleles
SH3PXD2A10105362591GANM_014631.1:c.2300C>Tp.(Ser767Phe)9/30612 South Asian alleles
TECTB10114044422ATNM_058222.2:c.206A>Tp.(Tyr69Phe)5/30356 South Asian alleles (1 homozygote)
  • Whole exome sequencing of II-1, II-2, III-2, III-4, III-5 and III-7 revealed rare, coding variants in seven candidate genes which had not previously been associated with hydrops. All variants were entered in GeneMatcher. Sequencing of III-8 had not been undertaken at that time.

  • Created by the authors.