Table 3 Diagnostic large CNV spanning multiple genes
From: Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
Case N | Patient ID | Mutation | Genes duplicated/deleted | # of allele copies | Condition | OMIM or Orphanet ID | ACMG class |
|---|---|---|---|---|---|---|---|
1 | 276 | 2q37 deletion | AGXT; D2HGDH; KIF1A; NDUFA10 | 1 | Chromosome 2q37 deletion syndrome | 600,430 | PVS1 |
2 | 352 | 2p16.3 deletion | NRXN1, Exons 2–3 | 1 | 2p16.3 deletion syndrome | 614,332 | PS1-4 |
3 | 51 | 4.16 duplication | CC2D2A; CPLX1; CTBP1; EVC; EVC2; FGFRL1; IDUA; KLB; LETM1; PIGG; QDPR; RBPJ; SEPSECS; WHSC1 | 3 | 4.16 microduplication syndrome | ORPHA:96,072 | PVS1 |
4 | 84 | 5p13 duplication | SLC6A19; AMACR; HCN1; NADK2; NDUFS6; SLC6A3 | mosaic | Chromosome 5p13 duplication syndrome | 613,174 | PVS1 |
5 | 328 | 15q24 deletion | CYP11A, SIN3A | 1 | 15q24 deletion syndrome, Witteveen-Kolk syndrome | 613,406 | PVS1 |
6 | 189 | 15q11.2 deletion | UBE3A; GABRB3 | 1 | Angelman syndrome | 615,656 | PVS1 |
7 | 398 | 15q11.2 duplication | UBE3A; GABRB3 | 3 | Chromosome 15q11-q13 duplication syndrome | 608,636 | PVS1 |
8 | 371 | 17p11.2 deletion | ALDH3A2; TOP3A; ATPAF2 | 1 | 17p11.2 deletion syndrome | 182,290 | PVS1 |
9 | 353 | 20P duplication | ATRN; ITPA; NDUFAF5; PANK2; PDYN; PLCB1; PRNP; SNRPB; TBC1D20 | 3 | Trisomy 20p | ORPHA:261,318 | PVS1 |
10 | 66 | X28 duplication | FLNA; NAA10; MECP2 | 2 | Intellectual developmental disorder, X-linked syndromic, Lubs type | 300,260 | PVS1 |