Case | Sample ID | Sex | Onset (year) | CNV type | Locationa | Size (kb) | Genes | CNV source | Exome seq |
---|---|---|---|---|---|---|---|---|---|
De novo | |||||||||
A | 8961143 | F | 6 | dup | Xp22.31 | 305 | VCX3B, KAL1 | de novo | ✓ |
B | 896993 | M | 8 | del | 4p16.3 | 165 | ADRA2C | de novo | |
dup | 3p26.3 | 1735 | CNTN6, CNTN4 | pat | |||||
C | 1254 (188613) | M | 3 | del | 3p12.2 | 182 | – | de novo | ✓ |
del | 3q26.31 | 142 | NLGN1 | mat | |||||
del | 7q36.2 | 115 | DPP6 | mat | |||||
dup | 7q36.3 | 67 | PTPRN2 b | pat | |||||
D | 896713 | F | 10 | dup (mosaic) | 10q11.22- q11.21 | 239 | ZFAND4, FAM21C, MARCH8 | de novo | nsf c |
dup | 10q24.1 | 81 | SLIT1 b | mat | |||||
Overlap with curated DECIPHER syndromesd | |||||||||
E | HAM493 | F | 8 | dup | 15q11.2-q13.1 | 4918 | 13 genes | n/a | |
F | 0625-4262-1 | M | 8 | dup | 1q21.1-21.2 | 1799 | 15 genes | mat | ✓ |
G | 1648 | F | 12 | del | 17p12 | 1404 | 8 genes | mat | ✓ |
dup | 5p11-p12 e | 1065 | HCN1 b | pat | |||||
H | 896573 | M | 9 | dup | 16p13.11 | 783 | 8 genes | mat | nsf |
Genes implicated in other neurodevelopmental disorders | |||||||||
I | 1298 | M | 5 | dup | Xp22.31 | 338 | NLGN4X | mat | ✓ |
J | 896673_a | M | 12 | del | 9q33.1 | 173 | ASTN2, TRIM32 | n/a | |
K | 7542 | M | 12 | del | 9q33.1 | 163 | ASTN2, TRIM32 b | n/a | |
L | 0625-3695-3 | M | 12 | dup | 12q24.33 | 682 | TMEM132D | mat | ✓ |
M | 1688 | F | 3 | del | 18q22.1 | 2126 | CDH19, CDH7 | mat | |
FMRP target genes | |||||||||
N | HAM193 | M | 12 | dup | 9p24.1 | 1489 | PTPRD, C9orf123 | n/a | |
O | 896553 | F | 6 | del | 8p23.3 | 16 | DLGAP2 | pat | ✓ |
P | 1213 | M | 4 | dup | 18p11.31 | 62 | DLGAP1 | pat | ✓ |
Overlap BTBD9 | |||||||||
Q | 0625-3790-3 | F | 8 | del | 6p21.2 | 107 | BTBD9 | pat | |
R | 0625-7518-3 | F | 7 | dup | 6p21.2 | 469 | GLO1, DNAH8, BTBD9 | pat |