Skip to main content

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
Back to article page

BMC Medicine

ISSN: 1741-7015

Contact us