Table 1 Genes affected by SNVs for which there is sufficient evidence to support a phenotypic expansion involving APVR.

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

Gene (gnomAD pLI), transcript

Disorder [MIM#]

Subject ID(s); variant, inheritance, ACMG interpretation

Number of individuals in our cohort with changes in this gene; diagnostic certainty

APVR-specific pathogenicity score (%)

Other cases of APVR reported for this gene/disorder

Cases of other CHDs reported for this gene/disorder

APVR/other CHDs seen in mouse models of this gene?

References

EFTUD2 (pLI = 1), NM_004247.4

Mandibulofacial dysostosis with microcephaly [MIM# 610536]

S2; c.593dupA p.(Y198*), de novo, pathogenic; S51; c.944del, p.(Ser315Thrfs*71), maternal, pathogenic; S52; c.2338T>C, p.(Cys780Arg), de novo, likely pathogenic;

S59; 8 kb deletion of exons 7-10, de novo, pathogenic

3; Definitive; definitive; probable; N/A

80.8

Yes

Yes

No/Yes*

[25, 45]

NAA15 (pLI = 1), NM_057175.3

Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities [MIM# 617787]

S7; c.239_240delAT, p.(H80Rfs*17), maternal, pathogenic

1; Definitive

81.2

Yes

Yes

No/No

[26]

NKX2-1 (pLI = 0.36), NM_001079668.3

Choreoathetosis, hypothyroidism, and neonatal respiratory distress [MIM# 610978]

S8; c.612 C>G, p.(Y204*), non-maternal, pathogenic

1; Definitive

87.2

Yes

Yes

No/No

[30, 31]

  1. * Abnormal left ventricular size, ACMG American College of Medical Genetics and Genomics, APVR anomalous pulmonary venous return, CHDs congenital heart defects.
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