Table 2 List of cases with the possible causal genetic variant(s) identified by WES
Family number | Gene | Clinical phenotype | mutation site | allelic frequency in ExAC | parental origin | GERP score | CADD score | MutationTaster | PROVEAN | SIFT |
|---|---|---|---|---|---|---|---|---|---|---|
PRE003 | PACS1 | ventriculomegaly; small cavum septum pellucidum | c.2413G>A:p.(Ala805Thr) | 1.06E-04 | maternal | 4.94 | 16.64 | Polymorphism | Neutral | Tolerated |
PRE004 | EEF1A2 | multiple congenital abnormalities | c.862G>A:p.(Glu288Lys) | not reported | de novo | 3.8199 | 28.1 | Disease causing | Damaging | Damaging |
PRE010 | DIS3L2 | microophthalmia; agenesis of corpus callosum | c.410A>G:p.(Tyr137Cys) | 6.95E-04 | maternal | 5.65 | 11.53 | Polymorphism | Neutral | Tolerated |
c.1826G>A:p.(Arg609Gln) | 2.05E-05 | paternal | 5.42 | 34 | Disease causing | Neutral | Damaging | |||
PRE013 | LRP2 | agenesis of corpus callosum; cardiac defects | c.1593C>A:p.(Ser531Arg) | 8.13E-06 | maternal | 5.7899 | 23.7 | Disease causing | Neutral | Tolerated |
c.10538C>A:p.(Ser3513Tyr) | 1.63E-05 | paternal | 5.96 | 28,9 | Disease causing | Damaging | Damaging | |||
PRE022 | ATRX | multiple congenital abnormalities | c.1825C>G:p.(Pro609Ala) | 1.07E-03 | not determined | 5.2199 | 0.004 | Polymorphism | Neutral | Damaging |
PRE028 | MYH7 | cardiac defects | c.3803G>A:p.(Arg1268His) | 7.31E-05 | de novo | 4.9899 | 35 | Disease causing | Damaging | Damaging |