Gene	Condition
ACTA2	Aortopathy
ACTC1	Cardiomyopathy
ACTN2	Cardiomyopathy
ACVRL1	High blood pressure
APOB	Hypercholesterolaemia
BAG3	Aortopathy, Arrhythmia
BMPR2	High blood pressure
CACNA1C	Arrhythmia, Cardiomyopathy
CACNB2	Arrhythmia
CALM1	Arrhythmia
CALM2	Arrhythmia
CALM3	Arrhythmia
CASQ2	Arrhythmia
CAV1	High blood pressure
CAV3	Cardiomyopathy
COL3A1	Vascular Ehlers-Danlos syndrome
COL5A1	Classical Ehlers-Danlos Syndrome
COL5A2	Classical Ehlers-Danlos Syndrome
CRYAB	Cardiomyopathy
CSRP3	Cardiomyopathy
DES	Arrhythmia, Cardiomyopathy
DMD	Cardiomyopathy
DSC2	Arrhythmia, Cardiomyopathy
DSG2	Arrhythmia, Cardiomyopathy
DSP	Arrhythmia, Cardiomyopathy
EMD	Arrhythmia, Cardiomyopathy
ENG	High blood pressure
F2	Thrombophilia
F5	Thrombophilia
F9	Haemophilia
FBN1	Aortopathy
FHL1	Cardiomyopathy
FLNC	Arrhythmia, Cardiomyopathy
GDF2	Arrhythmia, Cardiomyopathy
GLA	High blood pressure
GPD1L	Cardiomyopathy
HCN4	Arrhythmia
JUP	Arrhythmia, Cardiomyopathy
KCNE1	Arrhythmia
KCNE2	Arrhythmia
KCNH2	Arrhythmia
KCNJ2	Arrhythmia
KCNQ1	Arrhythmia
LAMP2	Cardiomyopathy
LDLR	Hypercholesterolaemia
LDLRAP1	Hypercholesterolaemia
LMNA	Arrhythmia, Cardiomyopathy
MYBPC3	Cardiomyopathy
MYH11	Aortopathy
MYH7	Cardiomyopathy
MYL2	Cardiomyopathy
MYL3	Cardiomyopathy
MYLK	Cardiomyopathy
NKX2-5	Cardiomyopathy
PCSK9	Hypercholesterolaemia
PKP2	Arrhythmia, Cardiomyopathy
PLN	Arrhythmia, Cardiomyopathy
PRKAG2	Arrhythmia, Cardiomyopathy
PRKG1	Aortopathy
PROC	Thrombophilia
PROS1	Thrombophilia
RBM20	Cardiomyopathy
RYR2	Arrhythmia, Cardiomyopathy
SCN5A	Arrhythmia, Cardiomyopathy
SERPINC1	High blood pressure
SGCD	Cardiomyopathy
SMAD3	Aortopathy
SMAD4	Aortopathy, High blood pressure
SMAD9	Pulmonary hypertension, primary, 2
TCAP	Cardiomyopathy
TGFB2	Aortopathy
TGFB3	Aortopathy
TGFBR1	Aortopathy
TGFBR2	Aortopathy
TMEM43	Cardiomyopathy
TNNC1	Cardiomyopathy
TNNI3	Cardiomyopathy
TNNT2	Cardiomyopathy
TPM1	Cardiomyopathy
TRDN	Catecholaminergic Polymorphic Ventricular Tachycardia
TTN*	TTN-cardiomyopathy
TTR	TTR-cardiomyopathy - Hereditary Transthyretin Amyloidosis
VCL	Cardiomyopathy

 

Cancer risk genes (65)

Gene	Condition
AIP	Pituitary adenomas
APC	Colorectal, endocrine, gastric, nervous system/brain, and pancreatic cancer, sarcoma
ATM	Breast, pancreatic, and prostate cancer
AXIN2	Colorectal cancer
BAP1	Renal/urinary tract cancer, melanoma
BARD1	Breast cancer
BMPR1A	Colorectal, gastric, and pancreatic cancer
BRCA1	Breast, gynecologic, pancreatic, and prostate cancer
BRCA2	Breast, gynecologic, pancreatic, and prostate cancer, melanoma
BRIP1	Breast and gynecologic cancer
CDC73	Endocrine and renal/urinary tract cancer
CDH1	Breast, colorectal, and gastric cancer
CDK4	Melanoma
CDKN1B	Prostate
CDKN2A	Nervous system/brain and pancreatic cancer, melanoma
CHEK2	Breast, colorectal, endocrine, gynecologic, and prostate cancer
DICER1	Endocrine, gynecologic, nervous system/brain, and renal/urinary tract cancer, sarcoma
EGFR	Lung cancer
EPCAM	Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer
FH	Renal/urinary tract cancer, sarcoma
FLCN	Renal/urinary tract cancer
GREM1	Colorectal cancer
HOXB13	Prostate cancer
KIT	Gastric cancer, sarcoma
LZTR1	Schwannomatosis
MAX	Endorcrine cancer
MEN1	Endocrine, nervous system/brain, and pancreatic cancer
MET	Renal/urinary tract cancer
MITF	Melanoma
MLH1	Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer
MSH2	Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer
MSH3	Colorectal cancer, includes reporting of carrier status
MSH6	Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer
MUTYH	Colorectal cancer
NF1	Breast, endocrine, gastric, and nervous system/brain cancer
NF2	Nervous system/brain cancer
NTHL1	Colorectal cancer, includes reporting of carrier status
PALB2	Breast and pancreatic cancer
PDGFRA	Gastric cancer, sarcoma
PMS2	Colorectal, gastric, gynecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer
POLD1	Colorectal cancer
POLE	Colorectal cancer
POT1	Melanoma, leukaemia
PRKAR1A	Endocrine and nervous system/brain cancer, sarcoma
PTCH1	Nervous system/brain and skin cancer, sarcoma
PTEN	Breast, colorectal, endocrine, gynecologic, nervous system/brain and, renal/urinary tract cancer, melanoma
RAD51C	Breast and gynecologic cancer
RAD51D	Breast and gynecologic cancer
RB1	Melanoma, retinoblastoma, sarcoma
RET	Endocrine cancer
SDHA	Endocrine and gastric cancer, sarcoma
SDHAF2	Endocrine cancer
SDHB	Endocrine, gastric, and renal/urinary tract cancer, sarcoma
SDHC	Endocrine, gastric, and renal/urinary tract cancer, sarcoma
SDHD	Endocrine, gastric, and renal/urinary tract cancer, sarcoma
SMAD4	Colorectal, gastric, and pancreatic cancer
SMARCA4	Gynecologic cancer
SMARCB1	Nervous system/brain and renal/urinary tract cancer
STK11	Breast, colorectal, gastric, gynecologic, and pancreatic cancer
TMEM127	Endocrine cancer
TP53	Breast, endocrine, gastrointestinal, genitourinary, gynecologic, hematologic, nervous system/brain, and skin cancer, sarcoma
TSC1	Nervous system/brain, pancreatic, and renal/urinary tract cancer
TSC2	Nervous system/brain, pancreatic, and renal/urinary tract cancer
VHL	Endocrine, nervous system/brain, pancreatic, and renal/urinary tract cancer
WT1	Renal/urinary tract cancer

Other risk genes (19)

Gene	Condition
ABCD1	X-Linked Adrenoleukodystrophy
BTD	Biotinidase deficiency
GAA	Glycogen storage disease - Pompe disease
GCH1	Dystonia
HMBS	Acute intermittent porphyria
HNF1A	Monogenic diabetes MODYIII
HNF1B	MODY5
MEFV	Familial Mediterranean Fever
RPE65	RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
ATP7B	Wilson disease/Parkinson disease risk
CACNA1S	Hypokalemic periodic paralysis (Malignant hyperthermia)
HAMP	Hemochromatosis type 2
HFE	Hemochromatosis
HJV	Hemochromatosis type 2A
SLC40A1	Hemochromatosis type 4
TFR2	Hemochromatosis type 3
RYR1	Central core disease (CCD) (Malignant hyperthermia)
SERPINA1	Alpha-1antitrypsin deficiency (AATD)
OTC	Ornithine transcarbamylase deficiency