| Proband | Features | Other affected family members | Parental origin | Custom panel | XLαs NM_080425.3 | NP_536350.2 | ACMG |
|---|---|---|---|---|---|---|---|
| 1 | SS | father, paternal grandfather | Paternal | Skeletal dysplasia (385 genes) | c.1043G>A | p.(Arg348Gln) | PM2; BP4 (7 vs 2) VUS |
| 2 | SS, BD | sister, father (only SS) | Paternal | iPPSD and related disorders (92 genes) | c.1343A>C | p.(Asp448Ala) | BP4 (13 vs 0) VUS? |
| 3 | none | De novo? (ongoing) | c.79G>A | p.(Glu27Lys) | PM2, BP4 (9 vs 4) VUS |
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