Table 3 Clinically relevant structural variants detected in 156 clinical WGS in silico gene panels
Sample ID | Reason for referral | Aberration type | Zygosity | Gene | Coordinates (hg19) | Size (bp) | Classification |
|---|---|---|---|---|---|---|---|
RD_P391 | SKD | Deletion | Heterozygous* | DYNC2H1 (exons 19–78) | chr11:103016472-103177263 | 161,791 | Likely pathogenic |
RD_P392 | Malformations | Deletion | Homozygous | B9D1 (exon 4) | chr17:19250943-19251153 | 210 | Pathogenic |
RD_P393 | Epilepsy | Deletion | Heterozygous | SCN3A (exon 1), CSRNP3, GALNT3 (whole gene) | chr2:166050817-166679227 | 628,410 | Pathogenic |
Inversion | Heterozygous | TTC21B (whole gene) | chr2:166679228-166818452 | 139,224 | |||
Deletion | Heterozygous | SCN1A (whole gene) | chr2:166818453-166939516 | 121,063 | |||
RD_P394 | NMD | Duplication | Homozygous | LAMA2 (exon 30) | chr6:129655050-129670080 | 15,030 | Pathogenic |
RD_P395 | NMD | Duplication | Homozygous | LAMA2 (exon 30) | chr6:129655050-129670080 | 15,030 | Pathogenic |
RD_P396 | NMD | Deletion | Heterozygous | DMD (exon 45) | chrX:31973924-32017000 | 43,076 | Pathogenic |
RD_P397 | NMD | Deletion | Hemizygous | DMD (exon 3–21) | chrX:32493944-33021034 | 527,090 | Pathogenic |
RD_P398 | Lissencephaly | Deletion | Heterozygous | PAFAH1B1 (exon 3–11) | chr17:2555675-2645203 | 89,528 | Pathogenic |
RD_P399 | NMD | Deletion | Homozygous | DYSF (exon 6–11) | chr2:71740967-71749805 | 8838 | Likely pathogenic |
RD_P400 | SKD | Deletion | Heterozygous | COPS7B (whole gene), NPPC, DIS3L2 (exons 1–5) | chr2:232647812-232930068 | 282,200 | Likely pathogenic |
RD_P401 | Eye disorder | Inversion | Hemizygous | CHM (exon 1) | chrX:85296959-85303375 | 6401 | Pathogenic |
RD_P402 | SKD | Deletion | Heterozygous | KDM6A (whole gene) | chrX:44207077-45518941 | 1.3 Mb | Pathogenic |