Table 2 Genes with definitive or probable diagnoses and known association with CHDs for which there is currently insufficient evidence to support a phenotypic expansion involving APVR.

From: Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Gene (pLI gnomAD)

Disorder [MIM#]

Subject ID; variant, inheritance, ACMG interpretation, diagnostic certainty

APVR-specific pathogenicity score (%)

Other cases of APVR reported for this gene/disorder

Cases of other CHDs reported for this gene/disorder

References

CCDC103 (pLI = 0)

Primary ciliary dyskinesia 17 [MIM# 614679]

S1; homozygous c.461A>C, p.(H154P), maternal/paternal, pathogenic, definitive

99.2

No

Yes

[46]

MYH7 (pLI = 0)

Multiple [MIM# 160760]

S9; c.1106G>A, p.(R369Q); maternal, likely pathogenic, probable

45.9

Yes (1 case of PAPVR)

Yes

[47]

  1. ACMG American College of Medical Genetics and Genomics, APVR anomalous pulmonary venous return, CHDs congenital heart defects, PAPVR partial anomalous pulmonary venous return.
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