Table 2.
Details of heterozygous or hemizygous pathogenic/likely pathogenic variants identified in this study
| Sample | % ROH | Gene | Chr | Position | HGVS (nucleotide) | HGVS (protein) | Variation type | ExAC Allele Count/Total Allele No. | Classification | Associated Disorders |
|---|---|---|---|---|---|---|---|---|---|---|
| ROH07 | 10 | PNPLA4 | X | 7,870,101 | c.559C > T | p.R187* | Stop-gain | 2/87731 | Likely pathogenic | Mitochondrial respiratory chain complex deficiencies |
| ROH21 | 5.89 | CADM1 | 11 | 115,088,681 | c.752A > C | p.Y251S | Missense | 42/121050 | Likely pathogenic | Susceptibility to ASD |
| ROH23 | 3.6 | HBB | 11 | 5,248,155 | c.92 + 5G > C | – | Splice region | 87/121280 | Likely pathogenic | Beta thalassaemia |
| ROH23 | 3.6 | HBB | 11 | 5,248,224 | c.27dupG | p.Ser10Valfs*14 | Frameshift | 34/121344 | Likely pathogenic | Beta thalassaemia |
| ROH34 | 5.3 | SOS1 | 2 | 39,278,394 | c.755 T > C | p.I252T | Missense | 9/121342 | Pathogenic | Noonan syndrome |
| ROH37 | 6.13 | SFTPC | 8 | 22,020,159 | c.115G > A | p.V39M | Missense | 4/120740 | Likely pathogenic | Interstitial lung disease |
| ROH44 | 24.55 | OTC | X | 38,226,630 | c.164A > G | p.Y55C | Missense | 0/121412 | Likely pathogenic | Ornithine transcarbamylase deficiency |
| ROH45 | 15.8 | PNPLA4 | X | 7,870,101 | c.559C > T | p.R187* | Stop-gain | 2/87731 | Likely pathogenic | Mitochondrial respiratory chain complex deficiencies |
| ROH52 | 18.1 | ASMT | X | 1,748,834 | c.562 + 2 T > C | – | Splice donor | 168/121412 | Pathogenic | Susceptibility to ASD |