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Table 4 Compound heterozygosity - Disease genes with CNVs and variants in the same individual

From: Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

Gene Number of affected (Total = 69) Number of unaffected (Total = 203) CNV frequency
ATG7 13 26 Rare
SNTG1 4 2 Common
PTPRD 4 3 Rare
IL4R 9 20 Rare
HLA-DQA1 7 15 Rare
KCNJ6 1 0 Amish Specific
CCDC50 6 15 Common
DICER1 1 1 Amish Specific
GALNTL4 1 1 Rare
ATP13A4 9 25 Rare
ERBB4 1 3 Common
MSR1 1 3 Rare
PARK2 1 3 Rare
RHD 2 6 Common
CDH13 0 1 Rare
PRKG1 0 1 Rare
WWOX 3 10 Common
SMARCA2 2 8 Common
CYP2D6 0 3 Rare
TUSC3 3 14 Rare
UGT1A7 0 7 Rare
UGT1A8 0 7 Rare
UGT1A10 0 8 Rare
UGT1A3 0 8 Rare
CTNNA3 0 9 Rare
CACNA1C 0 14 Common
  1. Counts in each column represent the number of individuals with both a CNV and another variant in the same gene.