From: Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
Case # | Sourcea | Variant type | Variant details | Individual | Sex | Age group | Inheritance | Reported NDD phenotype(s) | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
ASD | DD/ID | ADHD | SCZ/psychosis | Other | ||||||||
1 | This report | Multigene loss | chr15:51,670,601–51,933,000 × 1 262,400 bp (DMXL2, GLDN) | Proband (II-1) | F | Adult | Pat | + | − | + | − | +b |
2 | Daughter (III-1) | F | Child | Mat | + | +/− | − | − | +b | |||
3 | Father (I-1) | M | Adult | N.D. | − | − | − | − | +b | |||
4 | DECIPHER | Multigene loss | chr15:51,568,830–51,843,305 × 1 274,476 bp (DMXL2, GLDN, CYP19A1) | Proband | M | Adult | N.D. | + | + | + | − | − |
5 | Canadian laboratory | Intragenic loss | chr15:51,806,694–51,843,305 × 1 36,612 bp (DMXL2) | Proband | M | Child | N.D. | − | + | − | − | − |
6 | Lineagen laboratory | Intragenic gain | chr15:51,717,028–51,792,612 × 3 75,585 bp (DMXL2) | Proband | M | Child | N.D. | + | − | + | − | +c |
7 | Intragenic gain | chr15:51,708,028–51,874,928 × 3 166,901 bp (DMXL2) | Proband | M | Child | Pat | − | + | − | − | +d | |
8 | Multigene loss | chr15:51,735,136–52,620,104 × 1 884,969 bp (DMXL2 and 12 other genes) | Proband | F | Adult | N.D. | − | + | + | − | +e | |
9 | Twin sister | F | Adult | N.D. | − | − | − | + | − | |||
10 | Multigene gainf | chr15:50,848,381–51,741,314 × 3 892,934 bp (DMXL2, GLDN, and 7 other genes) | Proband | M | Child | N.D. | − | − | − | − | − | |
11 | Siblingg | F | Child | N.D. | − | − | − | − | − | |||
12 | PGC CNV data | Multigene gainf | chr15:50,888,568–51,748,611 × 3 860,044 bp (DMXL2, GLDN, and 7 other genes) | Proband | M | Adult | N.D. | − | − | − | + | − |
13 | Multigene gainf | chr15:50,892,945–51,748,611 × 3 855,667 bp (DMXL2, GLDN, and 7 other genes) | Proband | F | Adult | N.D. | − | − | − | + | − | |
14 | Autism Speaks MSSNG WGS data | LoF SNV | c.9081dupT [p.N3028_I3029delinsX] | Proband | M | Child | N.D. | + | − | − | − | − |
15 | LoF SNV | c.4387dupC [p.Q1463fs] | Probandh | F | Child | Pat | + | − | − | − | − | |
16 | LoF SNV | c.2239C>T [p.R747X] | Proband | M | Child | Mat | + | − | − | − | − | |
17 | LoF SNV | c.1618-2A>G | Proband | M | Child | Pat | + | − | − | − | − |