Gene | Gene Annotation | CNV type | Hits into gene set | Phenotype (individual number) |
---|---|---|---|---|
CRKL | v-crk avian sarcoma virus CT10 oncogene homolog-like | loss | ▪◆⋆△ | iVSD (2) cVSD(1) |
LBX1 | ladybird homeobox 1 | gain | ▪◆△ο | iVSD |
PAX3 | paired box 3 | gain | ▪◆△ο | iVSD |
TBX1 | T-box 1 | loss | ▪◆△ | iVSD (2) cVSD(1) |
PDLIM3 | PDZ and LIM domain 3 | loss | ▪◆ | ASD |
TXNRD2 | thioredoxin reductase 2 | loss | ▪◆ | iVSD (2) cVSD(1) |
GP1BB | glycoprotein Ib (platelet), beta polypeptide | loss | ◆△ | iVSD (2) cVSD(1) |
CASP3 | caspase 3, apoptosis-related cysteine peptidase | loss | ◆⋆△ | ASD |
MYH11 | myosin, heavy chain 11, smooth muscle | gain | ◆△ο | iVSD |
BMP5 | bone morphogenetic protein 5 | gain | ◆⊿△ο | iVSD |
EN1 | engrailed homeobox 1 | gain | ◆⊿△ο | cVSD |
PRKCB | protein kinase C, beta | gain | ◆⊿△ο | cVSD |
FGF12 | fibroblast growth factor 12 | gain | ◆ο | ASD |
HIRA | histone cell cycle regulator | loss | ⊿△ο | iVSD (2) cVSD(1) |
SOX2 | SRY (sex determining region Y)-box 2 | gain | ⊿ο | ASD |
DGCR2 | DiGeorge syndrome critical region gene 2 | loss | ⊿ο | iVSD (2) cVSD(1) |
PLK1 | polo-like kinase 1 | gain | △ο | cVSD |
EGFL6 | EGF-like-domain, multiple 6 | loss | △ de novo | cVSD |