Table 2.
List of families with candidate variants representing interpretation challenges
| Pedigree ID | # Affected members | Gender | Age at recruitment | Case ID | lrWGS Dx | Parental consanguinity | Gene | Variant | Zygosity | Reason missed by WES |
|---|---|---|---|---|---|---|---|---|---|---|
| F3612 | 2 | M | Stillbirth | 16DG0856 | -related Diamond-Blackfan anemia | First cousins | FLVCR1 | NM_014053.4:c.1593 + 5_1593 + 8del | Homozygous | Novel allelic disorder |
| F5543 | 1 | M | Neonate | 16DG0518 | Polycystic kidney disease 4, with or without hepatic disease | Second cousins | PKHD1 | NM_138694.4:c.2180A > G;p.(Asn727Ser) | Homozygous | High MAF in the local population |
| F5349 | 2 | M | 1 month | 20DG1379 | Fanconi anemia, complementation group J | First cousins | BRIP1 | NM_032043.3:c.2392C > T;p.(Arg798*) | Homozygous | Intrafamilial genetic heterogeneity |
| F5993 | 2 | M | 1 year | 18DG0095 | STX3-related retinal dystrophy | First cousins | STX3 | NM_004177.5:c.786 + 190dup (ENST00000437946.2:c.455dup;p.(Asp152Glufs*11)) | Homozygous | Isoform confusion |
| F8602 | 2 | F | Neonate | 21DG0165 | NID1-related vein of Galen malformation | Same tribe | NID1 | NM_002508.3:c.3394C > T;p.(Arg1132Trp) | Homozygous | Novel allelic disorder |
| F7887 | 1 | M | 3 years | 20DG0198 | ABHD12-related developmental regression | First cousins | ABHD12 | NM_001042472.3:c.952G > A;p.(Val318Met) | Homozygous | Atypical presentation |
| F8544 | 2 | F | 14 years | 20DG1533 | C1orf109-related neurodevelopmental disease | Same tribe | C1orf109 | NM_001350767.2:c.224G > C:p.(Arg75Pro) | Homozygous | Erroneous application of MAF filter |