Table 1.
List of 147 genes for proactive testing
| ACTA2 | BRCA2 | CHEK2 | F9 | JUP | MLH1 | NTHL1 | PTCH1 | SDHC | TMEM127 |
| ACTC1 | BRIP1 | COL3A1 | FBN1 | KCNE1 | MSH2 | OTC | PTEN | SDHD | TMEM43 |
| ACTN2 | CACNA1C | CRYAB | FH | KCNE2 | MSH3 | PALB2 | RAD51C | SGCD | TNNC1 |
| ACVRL1 | CACNA1S | CSRP3 | FHL1 | KCNH2 | MSH6 | PCSK9 | RAD51D | SLC40A1 | TNNI3 |
| APC | CACNB2 | DES | FLCN | KCNJ2 | MUTYH | PDGFRA | RB1 | SMAD3 | TNNT2 |
| APOB | CALM1 | DICER1 | FLNC | KCNQ1 | MYBPC3 | PKP2 | RBM20 | SMAD4 | TPM1 |
| ATM | CALM2 | DMD | GDF2 | KIT | MYH11 | PLN | RET | SMARCA4 | VCL |
| ATP7B | CALM3 | DSC2 | GLA | LAMP2 | MYH7 | PMS2 | RYR1 | SMARCB1 | TP53 |
| AXIN2 | CASQ2 | DSG2 | GPDIL | LDLR | MYL2 | POLD1 | RYR2 | STK11 | TSC1 |
| BAG3 | CAV1 | DSP | GREM1† | LDLRAP1 | MYL3 | POLE | SERPINA1 | TCAP | TSC2 |
| BAP1 | CAV3 | EMD | HAMP | LMNA | MYLK | PRKAG2 | SERPINC1 | TFR2 | VHL |
| BARD1 | CDC73 | ENG | HCN4 | MAX | NBN | PRKAR1A | SCN5A | TGFB2 | WT1 |
| BMPR1A | CDH1 | EPCAM† | HFE | MEN1 | NF1 | PRKG1 | SDHA | TGFB3 | |
| BMPR2 | CDK4 | F2† | HJV | MET | NF2 | PROC | SDHAF2 | TGFBR1 | |
| BRCA1 | CDKN2A | F5† | HOXB13† | MITF† | NKX2-5 | PROS1 | SDHB | TGFBR2 |
Genes shown in bold are the 59 genes prescribed by the ACMG as medically actionable. Genes shown underlined are genes associated with CDC Tier 1 conditions. Genes shown in bold and underlined represent overlap between the two gene lists
†Genes that have analytic limitations. F2: prothrombin G20210A (c.*97G>A) variant only. F5: Factor V Leiden variant only. GREM1: promoter region deletion/duplication testing only. MITF: c.952G>A, p.Glu318Lys variant only. HOXB13: c.251G>A, p.Gly84Glu variant only. EPCAM: deletion/duplication testing only