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Table 3 Clinically relevant structural variants detected in 156 clinical WGS in silico gene panels

From: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

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
  1. SKD skeletal dysplasia, NMD neuromuscular disease. *Heterozygous missense in trans