Table 1.
Details of homozygous pathogenic or likely pathogenic variants discovered in this study
| Sample | % ROH | Gene | Chr | Position | HGVS (nucleotide) | HGVS (protein) | Variation type | ExAC Allele Count/Total Allele No.* | Classification | Associated Disorders |
|---|---|---|---|---|---|---|---|---|---|---|
| ROH04 | 13.5 | TYR | 11 | 88,924,546 | c.996G > A | p.M332I | Missense | 0/121412 | Pathogenic | Oculocutaneous albinism type 1 |
| ROH22 | 8.9 | PCCB | 3 | 136,002,730 | c.346C > T | p.P116S | Missense | 124/121382 | Likely pathogenic | Propionic acidemia |
| ROH26 | 4.34 | SLC25A15 | 13 | 41,381,541 | c.564C > G | p.F188L | Missense | 1/121412 | Likely pathogenic | hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome |
| ROH31 | 5.0 | NDUFV2 | 18 | 9,117,901 | c.120 + 5_120 + 8delGTAA | – | Splice Donor | 0/121412 | Pathogenic | Mitochondrial complex 1 deficiency |
| ROH44 | 24.55 | TPP1 | 11 | 6,638,271 | c.622C > T | p.R208* | Stop-gain | 21/121276 | Pathogenic | Neuronal ceroid lipofuscinosis |
| ROH52 | 18.1 | GJB2 | 13 | 20,763,452 | c.269 T > C | p.L90P | Missense | 107/121346 | Pathogenic | Deafness |
*For all these variants, there were no homozygotes reported in ExAC