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Table 1 List of 147 genes for proactive testing

From: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

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  
  1. 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
  2. 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