A-B: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

AARS2

Alanyl-tRNA Synthetase 2, Mitochondrial

Familial Hypertrophic Cardiomyopathy (HCM)

ABCA1

ATP-Binding Cassette Subfamily A (ABC1), Member 1

Tangier's Disease

HDL Deficiency Type 2

Familial Hypercholesterolemia

ABCA3

ATP-Binding Cassette, Sub-Family A (ABC1), Member 3

Pulmonary Surfactant Metabolism Dysfunction 3

ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction

ABCC6

ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6

Valvar and Vascular Disorders

Pseudoxanthoma Elasticum (PXE)

Generalized Arterial Calcification of Infancy-2 (GACI2)

ABCC9

ATP-binding Cassette Subfamily C, Member 9

Dilated Cardiomyopathy 1O (CMD1O)

Familial Atrial Fibrillation 12 (FAF 12)

Hypertrichotic Osteochondrodysplasia (Cantu syndrome)

ABCG5

ATP-Binding Cassette Subfamily G (WHITE), Member 5

Sitosterolemia

Atheroschlerosis, association with

ABCG8

ATP-Binding Cassette Subfamily G (WHITE), Member 8

Sitosterolemia

ACADVL

Acyl-CoA Dehydrogenase, Very Long Chain

ACADVL Deficiency

Cardiomyopathy

ACTA1

Actin, Alpha 1, Skeletal Muscle

Muscular Dystrophies with Cardiomyopathy.

ACTA2

Smooth Muscle
Alpha Actin

Familial Thoracic Aortic Aneurysm/Dissection Type 6 (AAT6)

ACTC1

Cardiac Muscle Alpha Actin

Left Ventricular Noncompaction (LVNC)

Dilated Cardiomyopathy (DCM)

Hypertrophic Cardiomyopathy (HCM)

ACTN2

Alpha Actin 2

Familial Hypertrophic Cardiomyopathy (HCM)

Dilated Cardiomyopathy 1AA (CMD1AA)

ACVR2B

Activin A Receptor, Type IIB 2 

Congenital Heart Defects (CHD)

Visceral Heterotaxy

ACVRL1 (ALK1)

Activin A Receptor, Type II-Like 1

Pulmonary Arterial Hypertension (PAH)

ADCK3

AarF Domain Containing Kinase 3

Congenital Heart Diseases (CHD)

Primary Coenzyme Q10 Deficiency 4

Autosomal Recessive Spinocerebellar Ataxia 9

ADRB1

Adrenoceptor Beta 1

Cardiomyopathy

Aortic Coarctation.

AGL

Amylo-1,6-Glucosidase

Glycogen Storage Disease IIIa

Glycogen Storage Disease IIIb

Cardiomyopathy

AKAP9

A-Kinase Anchoring
Protein 9

Long QT Syndrome Type 11 (LQT11)

AKT3

V-Akt Murine Thymoma Viral Oncogene Homolog 3

Arrhythmia

Hemimegalencephaly

Thymoma

ALMS1

Alstrom Syndrome Protein 1

Cardiomyopathy

Alstrom Syndrome

ANGPTL3

Angiopoietin-Like 3

Familial Hypobetalipoproteinemia Type 2

ANGPTL4

Angiopoietin-Like 4

Polygenic Dyslipidemia, association with

ANK2

Neuronal Ankyrin 2

Long QT Syndrome Type 4 (LQT4)

ANKRD1

Ankyrin Repeat Domain-Containing Protein 1

Dilated Cardiomyopathy

Diastolic Heart Failure

APOA1

Apolipoprotein A-1

Familial Hypoalphalipoproteinemia

Tangier's Disease

Familial Visceral Amyloidosis (Ostertag Type)

APOA2

Apolipoprotein A-II

Apolipoprotein A-II Deficiency

Hypercholesterolemia

APOA5

Apolipoprotein A-V

Hypertriglyceridemia

Hyperlipoproteinemia

APOB

Apolipoprotein B

Type B Autosomal Dominant Hypercholesterolemia

Type 1 Familial Hypobetalipoproteinemia

APOC2

Apolipoprotein C-II

Apolipoprotein C-II Deficiency

Type 1 Hyperlipoproteinemia Type IB

APOE

Apolipoprotein E

Familial Dysbetalipoproteinemia

Type II Hyperlipoproteinemia (HLPIII)

ARHGAP31

Rho GTPase Activating Protein 31

Congenital Heart Diseases (CHD)

ARX

Aristaless Related Homeobox

Congenital Heart Diseases (CHD)

ATP5E

Mitochondrial ATP Synthase F1 Complex, Epsilon Subunit

Mitochondrial Complex V Deficiency, Nuclear Type 3

Cardiomyopathy

ATP6V0A2

ATPase, H+ Transporting, Lysosomal V0 Subunit A2

Valvar and Vascular Disorders

ATRX

Alpha Thalassemia/Mental Retardation Syndrome X-Linked

Congenital Heart Diseases (CHD)

BAG3

BCL2-Associated Athanogene 3

Dilated Cardiomyopathy 1HH

Myofibrillar Myopathy Type 6

B3GAT3

Beta-1,3-Glucuronyltransferase 3

Congenital Heart Diseases (CHD)

BCOR

BCL6 Corepressor

Congenital Heart Diseases (CHD)

Syndromic Microphthalmia 2 (MCOPS2)

Oculofaciocardiodental Syndrome (OFCD)

BMPR2

BMPR2

Pulmonary Arterial Hypertension (PAH)

BRAF

V-RAF Murine Sarcoma Viral Oncogene Homolog B1

Noonan Syndrome 7

Cardiofaciocutaneous Syndrome

Cardiomyopathy

C-D: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

CACNA1B

CACNA1B

Short QT Syndrome (SQTS)

CACNA1C

CACNA1C

Long QT Syndrome Type 8 (LQT8)

Short QT Syndrome (SQTS)

CACNA1D

Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit

Arrhythmia

CACNA2D1

Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1

Short QT Syndrome (SQTS)

Brugada Syndrome/J-Wave Syndrome

CACNB2

CACNB2

Brugada Syndrome Type 4

CALM1

Calmodulin 1

Long QT Syndrome (LQTS)

Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT)

CALM2

Calmodulin 2

Long QT Syndrome (LQTS)

Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT)

CALR3

Calreticulin 3

Familial Hypertrophic Cardiomyopathy 19

Syncope

CASQ2

Calsequestrin 2

Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT)

CAV1

Caveolin 1

Pulmonary Arterial Hypertension (PAH)

Congenital Generalized Lipodystrophy Type 3

CAV3

Caveolin 3

Caveolinopathies

Long QT Syndrome Type 9 (LQT9)

Sudden Infant Death Syndrome (SIDS)

CBL

CAS-BR-M Murine Ecotropic Retroviral Transforming Sequence Homolog

Noonan Syndrome-like Disorder

Cardiomyopathy

CBS

Cystathionine Beta-Synthase

Marfan-like Syndrome Homocystinuria (pyridoxine-responsive and nonresponsive types)

Hyperhomocysteinemic Thrombosis

CFC1

Cripto, FRL-1, Cryptic Family 1

Congenital Heart Disease (CHD)

Autosomal Visceral Heterotaxy

CHD7

Chromodomain Helicase DNA Binding Protein 7

Congenital Heart Diseases (CHD)

CHARGE Syndrome

CHST14

Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14

Valvar and Vascular Disorders

Musculocontractural Ehlers-Danlos Syndrome Type 1

COA5

Cytochrome C Oxidase Assembly Factor 5

Mitochondrial Complex IV Deficiency

Leigh Syndrome with Cardiomyopathy

COL1A1

Collagen, Type I, Alpha 1

Valvar and Vascular Disorders

Caffey Disease

Osteogenesis Imperfecta

Ehlers-Danlos Syndromes I and VIIa

COL1A2

Collagen, Type I, Alpha 2

Valvar and Vascular Disorders

Ehlers-Danlos Syndrome with a Cardiac Valvar Phenotype

Atypical Marfan Syndrome.

COL18A1

Collagen, Type XVIII, Alpha 1

Congenital Heart Diseases (CHD)

COL2A1

Collagen, Type II, Alpha 1

Valvar and Vascular Disorders

Congenital Heart Diseases (CHD)

COL3A1

Collagen, Type III
Alpha 1

Ehlers-Danlos Syndrome Types IV (EDS IV)

Aortic and Arterial Aneurysms

COL4A1

Collagen, Type IV, Alpha 1

Valvar and Vascular Disorders

Hereditary Angiopathy with Nephropathy Aneurysms and Muscle Cramps 

COL5A1

Collagen, Type V, Alpha 1

Valvar and Vascular Disorders

Ehlers-Danlos Syndromes (EDS), Types I and II

COL5A2

Collagen, Type V, Alpha 2

Valvar and Vascular Disorders

Ehlers-Danlos Syndromes (EDS), Types I and II

CREBBP

CREB Binding Protein

Congenital Heart Diseases (CHD)

Rubinstein-Taybi Syndrome

Acute Myeloid Leukemia

CRELD1

Cysteine-Rich with EGF-Like Domains 1

Congenital Heart Diseases (CHD)

Heterotaxy

CRYAB

Crystallin, Alpha-B

Dilated Cardiomyopathy

Myofibrillar Myopathy 2

Alpha-B Crystallin-related Fatal Infantile Hypertrophy

Myofibrillar Myopathy

CSF2RA

Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity

Idiopathic Pulmonary Fibrosis (IPF)

Pulmonary Surfactant Metabolism Dysfunction 4

CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction.

CSRP3

Cysteine- And Glycine-Rich Protein 3

Dilated Cardiomyopathy 1M

Familial Hypertrophic Cardiomyopathy 12

CTF1

Cardiotrophin 1

Hypertrophic Cardiomyopathy (HCM)

CTNNA3

Alpha-3 Catenin

Familial Arrhythmogenic Right Ventricular Dysplasia 13 (ARVD 13)

DES

Desmin

Desmin-related Myopathy

Dilated Cardiomyopathy

Cardiomyopathy

Distal Myopathy

DHCR24

24-Dehydrocholesterol Reductase

Congenital Heart Diseases (CHD)

Desmosterolosis

DLL3

Delta-Like 3 (Drosophila)

Congenital Heart Disease (CHD)

Spondylocostal Dysostosis Type 1

DMD

Dystrophin

Duchenne Muscular Dystrophy

Becker Muscular Dystrophy

DMD-associated Dilated Cardiomyopathy

DMPK

Dystrophia Myotonica Protein Kinase

Congenital Myotonic Dystrophy

Cardiomyopathy

DNAH5

Dynein, Axonemal, Heavy Chain 5

Congenital Heart Diseases (CHD)

Primary Ciliary Dyskinesia 3 with or without Situs Inversus

DNAH5-Related Primary Ciliary Dyskinesia.

DNAH11

Dynein, Axonemal, Heavy Chain 11

Congenital Heart Diseases (CHD)

Kartagener Syndrome

DNAI1

Dynein, Axonemal, Intermediate Chain 1

Congenital Heart Disease (CHD)

Primary Ciliary Dyskinesia (PCD)

DNAJC19

DNAJ/HSP40 Homolog, Subfamily C, Member 19

Dilated Cardiomyopathy with Ataxia

DOLK

Dolichol Kinase

Congenital Disorder Of Glycosylation Type Im

Dilated Cardiomyopathy

DPP6

Dipeptidyl-Peptidase 6

Arrhythmia

Cardiomyopathy

DSC2

Desmocollin 2

Familial Arrhythmogenic Right Ventricular Dysplasia Type 11 (ARVD11)

DSG2

Desmoglein 2

Familial Arrhythmogenic Right Ventricular Dysplasia Type 10 (ARVD10)

DSP

Desmoplakin

Familial Arrhythmogenic Right Ventricular Dysplasia Type 8 (ARVD8)

Dilated Cardiomyopathy with Wooly Hair And Keratoderma

DTNA

Alpha Dystrobrevin

Left Ventricular Noncompaction 1 (LVNC 1), with or without Congenital Heart Defects

E-G: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

EFEMP2

EGF Containing Fibulin-Like Extracellular Matrix Protein 2

Valvar and Vascular Disorders

Lethal Arteriopathy Syndrome

EIF2AK4

Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4

Pulmonary Arterial Hypertension (PAH)

ELMOD2

ELMO/CED-12 Domain Containing 2

Familial Idiopathic Pulmonary Fibrosis (IPF)

ELN

Elastin

Congenital Heart Diseases (CHD)

Valvar and Vascular Disorders

EMD

Emerin

X-linked Emery-Dreifuss Muscular Dystrophy 1

X-linked EMD-Related Emery-Dreifuss Muscular Dystrophy 

ENG

Endoglin

Pulmonary Arterial Hypertension (PAH)

Hereditary Hemorrhagic Telangiectasia Syndrome (HHT)

EPHX2

Cytoplasmic Epoxide Hydrolase 2 

Fetal Hydantoin Syndrome

Familial Hypercholesterolemia 

ESCO2

Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2

Congenital Heart Diseases (CHD)

Roberts Syndrome

EVC

Ellis Van Creveld Protein

Congenital Heart Diseases (CHD)

Ellis-Van Creveld Syndrome

EVC2

Ellis Van Creveld Syndrome 2

Congenital Heart Diseases (CHD)

Ellis-Van Creveld Syndrome

EYA1

EYA Transcriptional Coactivator And Phosphatase 1

Congenital Heart Diseases (CHD)

Branchiootic Syndrome 1

Otofaciocervical Syndrome

EYA4

EYA Transcriptional Coactivator And Phosphatase 4

Dilated Cardiomyopathy 1J (CMD1J)

Autosomal Dominant Deafness  10 

FANCA

Fanconi Anemia, Complementation Group A

Congenital Heart Diseases (CHD)

Fanconi Anemia (FA)

FANCC

Fanconi Anemia, Complementation Group C

Congenital Heart Diseases (CHD)

Fanconi Anemia (FA)

FANCD2

Fanconi Anemia, Complementation Group D2

Congenital Heart Diseases (CHD)

Fanconi Anemia (FA)

FANCE

Fanconi Anemia, Complementation Group E

Congenital Heart Diseases (CHD)

Fanconi Anemia (FA)

FASTKD2

FAST Kinase Domains 2

Congenital Heart Diseases (CHD)

Mitochondrial Complex IV Deficiency

FBLN5

Fibulin 5

Valar and Vascular Disorders

Autosomal Dominant Cutis Laxa

Autosomal Recessive Cutis Laxa Type I (CL type I)

Age-Related Macular Degeneration Type 3 (ARMD3)

FBN1

Fibrillin-1

Marfan Syndrome (MFS)

Neonatal Marfan Syndrome

Isolated Skeletal Features of Marfan Syndrome

Autosomal Dominant Ectopia Lentis

Aortic Aneurysm

FBN2

Fibrillin-2

Congenital Contractural Arachnodactyly

FGD1

FYVE, RhoGEF And PH Domain Containing 1

Congenital Heart Diseases (CHD)

Aarskog-Scott syndrome.

FGFR2

Fibroblast Growth Factor Receptor 2

Congenital Heart Diseases (CHD)

FHL1

Four-And-A-Half LIM Domains 1

X-linked Emery-Dreifuss Muscular Dystrophy 6

X-linked Myopathy

Cardiomyopathy

FHL2

Four-And-A-Half LIM Domains 2

Rhabdomyosarcoma

Cardiomyopathy

FKTN

Fukutin

Dilated Cardiomyopathy 1X

Congenital Muscular Dystrophy-Dystroglycanopathy,
Types A, B, C

FLNA

Filamin A, Alpha

X-linked Cardiac Valvular Dysplasia

Congenital Heart Diseases (CHD)

FLNB

Filamin B, Beta

Congenital Heart Diseases (CHD)

FOXC2

Forkhead Box C2

Congenital Heart Diseases (CHD)

FOXH1

Forkhead Box H1

Congenital Heart Diseases (CHD)

Heterotaxy

FOXRED1

FAD-Dependent Oxidoreductase Domain-Containing Protein 1

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Mitochondrial Complex I deficiency

Cardiomyopathy

FXN

Frataxin

Friedreich Ataxia

Hypertrophic Cardiomyopathy

GAA

Acid Alpha-Glucosidase

Pompe Disease

Hypertrophic Cardiomyopathy

GATA4

GATA4

Atrial Septal Defect Type 2 (ASD2)

Atrioventricular Septal Defect Type 4

Ventricular Septal Defect Type 1

GATA6

GATA Binding Protein 6

Congenital Heart Diseases (CHD)

GATAD1

GATA Zinc Finger Domain-Containing Protein 1

Dilated Cardiomyopathy 2B

GBA

Beta-Glucocerebrosidase

Gaucher Disease,

Cardiovascular Calcifications and Valvular Calcification (Mitral Valve Calcification)

GDF1

Growth Differentiation Factor 1

Congenital Heart Diseases (CHD)

Heterotaxy

GDF2

Growth Differentiation Factor 2

Pulmonary Arterial Hypertension (PAH)

Hereditary Hemorrhagic Telangiectasia Syndrome (HHT)

GJA1

Gap Junction Protein, Alpha 1 

Oculodentodigital Dysplasia

Congenital Heart Diseases (CHD) includes Atrioventricular Septal Defect 3 and Hypoplastic Left Heart Syndrome 1

GJA5

Gap Junction Protein, Alpha 5

Congenital Heart Diseases (CHD)

Familial Atrial Fibrillation (FAF)

GLA

Alpha-Galactosidase A

Fabry Disease

Hypertrophic Cardiomyopathy

Left Ventricular Hypertrophy (LVH)

GLB1

Beta Galactosidase-1

GM1-Gangliosidosis

Cardiomyopathy

GLI3

GLI Family Zinc Finger 3

Congenital Heart Diseases (CHD)

GNAI2

Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting Activity Polypeptide 2

CPVT

Idiopathic Ventricular Tachycardia

GPC3

Glypican 3

Congenital Heart Diseases (CHD)

GPD1L

GPD1L

Brugada Syndrome Type 2

Sudden Infant Death Syndrome (SIDS)

GPIHBP1

Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1

Familial Lipoprotein Lipase Deficiency

Hyperlipoproteinemia Type IB

GSN

Gelsolin

Familial Atrial Fibrillation (FAF)

Cardiomyopathy

GUSB

Beta-Glucuronidase

Mucopolysaccharidosis Type VII (MPS VII)

Cardiomyopathy

H-K: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

HADH

Hydroxyacyl-CoA Dehydrogenase

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Dyslipidemia 

Familial Hyperinsulinemic Hypoglycemia 4

HCN4

Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4

Brugada Syndrome Type 8
Sick Sinus Syndrome 2

HFE

HFE

Hereditary Hemochromatosis (HH)

Cardiomyopathy

HOXA1

Homeobox A1

Congenital Heart Diseases (CHD)

HRAS

Harvey Rat Sarcoma Viral Oncogene Homolog

Costello Syndrome

Atrial Tachycardia

Hypertrophic Cardiomyopathy (HCM)

IGBP1

Immunoglobulin (CD79A) Binding Protein 1

Congenital Heart Diseases (CHD)

ILK

Integrin-Linked Kinase

Dilated Cardiomyopathy (DCM)

JAG1

Jagged 1

Congenital Heart Diseases (CHD)

JPH2

Junctophilin 2

Congenital Heart Diseases (CHD)

Dilated Cardiomyopathy (DCM)

JUP

Junction Plakoglobin

Arrhythmogenic Right Ventricular Dysplasia 12 (ARVD12)

Naxos Disease 

KCNA5

Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5

Pulmonary Arterial Hypertension (PAH)

Familial Atrial Fibrillation Type 7

KCNA5-Related Familial Atrial Fibrillation

KCND3

Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 3

Brugada Syndrome (BrS)

KCNE1

Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1

Long QT Syndrome Type 5 (LQTS5)

Jervell and Lange-Nielsen Syndrome Type 2

KCNE1L

Potassium Voltage-Gated Channel Subfamily E Member 1-Like Protein (=KCNE5)

Brugada Syndrome (BrS)

Cardiac And Neurologic Abnormalities Found in AMME Contiguous Gene Syndrome

Familial Atrial Fibrillation (FAF)

KCNE2

Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 2

Long QT Syndrome Type 6 (LQTS6)

Romano-Ward Syndrome

Familial Atrial Fibrillation (FAF) Type 4

KCNE3

Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3

Brugada Syndrome (BrS) Type 6

KCNH2

Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2

Long QT Syndrome Type 2 (LQTS2)

Short QT Syndrome (SQTS)

Sudden Cardiac/Infant Death Syndrome (SCIDS)

KCNJ2

Potassium Channel, Inwardly Rectifying Subfamily J, Member 2

Long QT Syndrome Type 7 (LQTS7)

Andersen-Tawil Syndrome

KCNJ5

Potassium Channel, Inwardly Rectifying Subfamily J, Member 5

Long QT Syndrome Type 13 (LQTS13)

KCNJ8

Potassium Channel, Inwardly Rectifying Subfamily J, Member 8

Sudden Cardiac/ Infant Death Syndrome (SCIDS)

J-Wave Syndrome

KCNK3

Potassium Channel, Two Pore Domain Subfamily K, Member 3

Pulmonary Arterial Hypertension (PAH)

KCNQ1

Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1

Long QT Syndrome Type 1 (LQTS1)

Familial Atrial Fibrillation (FAF) Type 3

Sudden Cardiac/ Infant Death Syndrome (SCIDS)

Short QT Syndrome (SQTS)

KRAS

Kirsten Rat Sarcoma Viral Oncogene Homolog

Noonan Syndrome

Cardiofaciocutaneous Syndrome (CFC)

Cardiomyopathy

L-M: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

LAMA4

Laminin, Alpha-4

Dilated Cardiomyopathy 1JJ

Hypertrophic Cardiomyopathy (HCM)

LAMP2

LAMP-2

Danon Disease

Hypertrophic or Dilated Cardiomyopathy with Skeletal Myopathy and/or Wolff-Parkinson-White Syndrome

LBR

Lamin B Receptor

Congenital Heart Diseases (CHD)

LCAT

Lecithin-Cholesterol Acyltransferase (LCAT)

Norum Disease (LCAT Deficiency)

Fish-Eye Disease

LDB3 (ZASP)

LIM Domain Binding 3

Dilated Cardiomyopathy (DCM)

Left Ventricular Noncompaction (LVNC)

Myofibrillar Myopathy

LDLR

Low Density Lipoprotein Receptor

Familial Hypercholesterolemia

LDLRAP1

Low Density Lipoprotein Receptor Adaptor Protein 1

Familial Hypercholesterolemia

LEFTY2

Left-Right Determination Factor 2

Congenital Heart Diseases (CHD)

Heterotaxy

LIPC

Hepatic Lipase

Hepatic Lipase Deficiency

LIPI

Lipase, Member I

Familial Hypertriglyceridemia (FHTR)

LMF1

Lipase Maturation Factor 1

Combined Lipase Deficiency (CLD)

LPL

HTGL

LMNA

Lamin A/C

Emery-Dreifuss Muscular Dystrophy

Dilated Cardiomyopathy

Cardiomyopathy with Conduction Defects

Partial Lipodystrophy

Charcot-Marie-Tooth

Mandibuloacral Dysplasia

Hutchinson-Gilford Progeria Syndrome

LPIN1

Lipin 1

Autosomal Recessive Acute Recurrent Myoglobinuria (ARARM)

Metabolic Syndrome, association with

Type 2 Diabetes

LPL

Lipoprotein Lipase

Familial Combined Hyperlipidemia (FCHL)
Lipoprotein Lipase Deficiency

LRP5

Low Density Lipoprotein Receptor-Related Protein 5

Congenital Heart Diseases (CHD)

LTBP4

Latent Transforming Growth Factor Beta Binding Protein 4

Valvar And Vascular Disorders

Autosomal Recessive Cutis Laxa Type IC

Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies

MAP2K1

Mitogen-Activated Protein Kinase Kinase 1

Cardiofaciocutaneous Syndrome 3 (CFC 3)

Noonan Syndrome-Like Disorders

Cardiomyopathy

MAP2K2

Mitogen-Activated Protein Kinase Kinase 2

Cardiofaciocutaneous Syndrome 4 (CFC 4)

Noonan Syndrome-Like Disorders

Cardiomyopathy

MAT2A

Methionine Adenosyltransferase II, Alpha

Thoracic Aortic Aneurysm

MFAP5

Microfibrillar Associated Protein 5

Familial Thoracic Aortic Aneurysm Type 9

MIB1

Homolog Of Drosophila Mindbomb 1

Left Ventricular Noncompaction 7 (LVNC7)
Left Ventricular Noncompaction 1 (LVNC1), with or without Congenital Heart Defects

MID1

Midline 1

Congenital Heart Defects (CHD)

Opitz Syndrome

MKKS

McKusick-Kaufman Syndrome

Congenital Heart Diseases (CHD)

MKS1

Meckel Syndrome, Type 1

Congenital Heart Diseases (CHD)

MRPL3

Mitochondrial Ribosomal Protein L3

Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)
Mitochondrial Cardiomyopathy

MTTP

Microsomal Triglyceride Transfer Protein (MTTP)

Metabolic Syndrome, association with
Abetalipoproteinemia, association with

MUC5B

Mucin 5, Subtype B

Idiopathic Pulmonary Fibrosis (IPF)

Diffuse Panbronchiolitis

MYBPC3

Cardiac Myosin-Binding Protein C

Dilated Cardiomyopathy 1MM

Familial Hypertrophic Cardiomyopathy 4

Left Ventricular Noncompaction 10 (LVNC 10)

MYCN

V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog

Feingold Syndrome

Congenital Heart Defects (CHD)

MYF6

Myogenic Factor 6 (Herculin)

Cardiomyopathy 

MYH11

Myosin, Heavy Chain 11, Smooth Muscle

Familial Thoracic Aortic Aneurysm/Dissection Type 4 (AAT4)

MYH6

Myosin, Heavy Chain 6, Cardiac Muscle, Alpha

Atrial Septal Defect 3

Dilated Cardiomyopathy 1EE

Familial Hypertrophic Cardiomyopathy 14

Sick Sinus Syndrome 3

MYH7

Myosin, Heavy Chain 7, Cardiac Muscle, Beta

Dilated Cardiomyopathy 1S

Familial Hypertrophic Cardiomyopathy 1

Laing Distal Myopathy

Left Ventricular Noncompaction 5

Myopathy, Myosin Storage

Scapuloperoneal Syndrome, Myopathic Type

MYL2

Myosin Light Chain 2, Regulatory, Cardiac, Slow

Familial Hypertrophic Cardiomyopathy 10

MYL2-Related Familial Hypertrophic Cardiomyopathy

MYL3

Myosin Light Chain 3, Alkali, Ventricular, Skeletal, Slow

Familial Hypertrophic Cardiomyopathy 8

MYL3-Related Familial Hypertrophic Cardiomyopathy

MYLK

Myosin Light Chain Kinase

Familial Aortic Dissection
Familial Thoracic Aortic Aneurysm 7 (AAT7)

MYLK2

Myosin Light Chain Kinase 2

Digenic Midventricular Hypertrophic Cardiomyopathy

Caveolinopathies

MYO6

Myosin VI

Hypertrophic Cardiomyopathy (HCM)

MYOM1

Myomesin 1

Hypertrophic Cardiomyopathy (HCM)

MYOT

Myotilin

Congenital Heart Diseases (CHD)

MYOZ2

Myozenin 2

Familial Hypertrophic Cardiomyopathy Type 16

MYOZ2-Related Familial Hypertrophic Cardiomyopathy

MYPN

Myopalladin

Dilated Cardiomyopathy 1KK

Familial Restrictive Cardiomyopathy Type 4

N-R: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

NEBL

Nebulette

Dilated Cardiomyopathy

Tricuspid Valve Insufficiency

Ebstein Anomaly

NEXN

Nexilin

Dilated Cardiomyopathy 1CC (CMD1CC)

Familial Hypertrophic Cardiomyopathy Type 20

NF1

Neurofibromin 1

Congenital Heart Diseases (CHD)

NIPBL

Nipped-B Homolog (Drosophila)

Cornelia De Lange Syndrome

NIPBL-Related CHD

NKX2.5

Homeobox
Protein Nkx-2.5

Isolated Nonsyndromic Congenital Heart Disease/Defects

NKX2.6

NK2 Homeobox 6

Congenital Heart Diseases (CHD)

NODAL

Nodal Growth Differentiation Factor

Congenital Heart Diseases (CHD)

Visceral Heterotaxy 5

Situs Inversus

NOTCH1

Homolog of Drosophila NOTCH 1

Bicuspid Aortic Valve (BAV)

Hypoplastic Left Heart Syndrome

Ventricular Septal Defects (VSD)

Tetralogy of Fallot (TOF)

NOTCH2

NOTCH2

Congenital Heart Diseases (CHD)

Alagille Syndrome 2

Hajdu-Cheney Syndrome

NOTCH3

Homolog of Drosophila NOTCH 3

Pulmonary Arterial Hypertension (PAH)

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL)

NPC1

Niemann-Pick Disease, Type C1

Niemann-Pick Disease Type C1

Niemann-Pick Disease Type D

NPHP3

Nephronophthisis 3 (Adolescent)

Congenital Heart Diseases (CHD)

Nephronophthisis 3 and Renal-Hepatic-Pancreatic Dysplasia 1

NPPA

Natriuretic Peptide A

Acute Myocardial Infarction, Mitral Valve Disease 

Familial Atrial Fibrillation Type 6

Atrial Standstill 2

NRAS

Neuroblastoma RAS Viral Oncogene Homolog

Cardiomyopathy

Noonan Syndrome 6

NSDHL

NAD(P) Dependent Steroid Dehydrogenase-Like

Congenital Heart Diseases (CHD)

CHILD Syndrome

CK Syndrome

NUBPL

Nucleotide Binding Protein-Like

Congenital Heart Diseases (CHD)

Mitochondrial Complex I Deficiency

PCSK9

Proprotein Convertase Subtilisin/Kexin Type 9

Familial Hypercholesterolemia 3

PDLIM3

PDZ And LIM Domain 3

Hypertrophic Cardiomyopathy (HCM)

Dilated Cardiomyopathy (DCM)

Myotonic Dystrophy

Myopathy Dementia

PEX7

Peroxisomal Biogenesis Factor 7

Congenital Heart Diseases (CHD)

Rhizomelic Chondrodysplasia Punctata Type 1

Peroxisome Biogenesis Disorder

Refsum Disease.

PKP2

Plakophilin 2

Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 9 (ARVD/C9)

PKP4

Plakophilin 4

Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

PLN

Phospholamban

Familial Hypertrophic Cardiomyopathy 18

Dilated Cardiomyopathy 1P

PLOD1

Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 1

Arrhythmia

Ehlers-Danlos Syndromes VI

PNPLA3

Patatin-Like Phospholipase Domain Containing 3

Fatty Liver Disease, association with

Nonalcoholic Fatty Liver Disease, association with

PPARA

Peroxisome Proliferator-Activated Receptor Alpha

Diabetes Mellitus, association with

Atherosclerosis, association with

Fatty Liver Disease, association with

Hyperglycemia, association with

Hypertension, association with

Heart Disease, association with

Hyperapobetalipoproteinemia, association with

PPARG

Peroxisome Proliferator-Activated Receptor Gamma

Familial Partial Lipodystrophy Type 3

Severe Obesity, association with

Diabetes, association with

Severe Digenic Insulin Resistance, association with

Carotid Intimal Medial Thickness 1, association with

Atherosclerosis, association with

PPP1R17

Protein Phosphatase 1, Regulatory Subunit 17

Hypercholesterolemia, association with

PRDM16

PR-Domain Containing Protein 16

Left Ventricular Noncompaction 8 (LVNC8)

Dilated Cardiomyopathy (CMD1LL)

PRKAB2

Protein Kinase, AMP-Activated, Beta 2 Non-Catalytic Subunit

Congenital Heart Diseases (CHD)

Familial Hypertrophic Cardiomyopathy

Wolff-Parkinson-White Syndrome.

PRKAR1A

Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha

Arrhythmia

Carney complex (CNC) Type 1

Familial Atrial Myxoma 

PRKAG2

AMP-Activated Protein Kinase, Noncatalytic, Gamma-2

Familial Hypertrophic Cardiomyopathy 6
Lethal Congenital Glycogen Storage Disease of Heart
Ventricular Pre-Excitation (Wolff-Parkinson-White Syndrome)

PRKG1

cGMP-Dependent Protein Kinase Type I

Aortic Aneurysm and Dissection

PSEN1

Presenilin 1

PSEN1-Related Dilated Cardiomyopathy

Frontotemporal Dementia

PSEN2

Presenilin 2

PSEN2-Related Dilated Cardiomyopathy

Alzheimer's Disease Type 1

PTPN11

Non-Receptor Type 11 Protein Tyrosine Phosphatase

Cardiomyopathy

Noonan Syndrome

Leopard Syndrome

PTRF

Polymerase I And Transcript Release Factor

Congenital Generalized Lipodystrophy Type 4

Congenital Generalized Lipodystrophy

RAF1

V-RAF-1 Murine Leukemia Viral Oncogene Homolog 1

Dilated Cardiomyopathy 1NN

Noonan Syndrome 5

Leopard Syndrome 2

RAI1

Retinoic Acid Induced 1

Congenital Heart Diseases (CHD)

Potocki-Lupski Syndrome 

Smith-Magenis Syndrome

RBM10

RNA Binding Motif Protein 10

TARP Syndrome

Congenital Heart Defects (CHD) such as ASD

RBM20

RNA-Binding Motif Protein 20

Dilated Cardiomyopathy 1DD

RET

Ret Proto-Oncogene

Congenital Heart Diseases (CHD)

Hirschsprung Disease 1

Multiple Endocrine Neoplasia IIA

RPL4

Ribosomal Protein L4

Congenital Heart Diseases (CHD)

RPSA

Ribosomal Protein SA

Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Congenital Heart Diseases (CHD)

RYR1

Ryanodine Receptor 1 (Skeletal)

Muscular Dystrophies with Cardiomyopathy

RYR2

Cardiac Ryanodine Receptor 2

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic Idiopathic Ventricular Fibrillation (CIVF)

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia(ARVD/C)

Hypertrophic Cardiomyopathy(HCM)

S: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

SALL1

Spalt-Like Transcription Factor 1

Congenital Heart Diseases (CHD)

Hemifacial Microsomia

Townes-Brocks Syndrome

SALL4

Spalt-Like Transcription Factor 4

Congenital Heart Diseases (CHD)

Duane-Radial Ray Syndrome

Ivic Syndrome

SCN1B

Sodium Channel, Voltage-Gated, Type I, Beta Subunit

Brugada Syndrome Type 5

Cardiac Conduction Defect

SCN2B

Sodium Channel, Voltage-Gated, Type II, Beta Subunit

Brugada Syndrome

Atrial Fibrillation (AF)

SCN3B

Sodium Channel, Voltage-Gated, Type III, Beta Subunit

Brugada Syndrome Type 7

SCN4B

Sodium Channel, Voltage-Gated, Type IV, Beta Subunit

Long QT Syndrome Type 10 (LQT10)

Sudden Infant Death Syndrome (SIDS)

SCN5A

Sodium Channel, Voltage-Gated, Type V, Alpha Subunit

Brugada Syndrome

Long QT Syndrome Type 3 (LQT3)

Idiopathic Ventricular Fibrillation

SCO2

SCO2 Cytochrome C Oxidase Assembly Protein

Hypertrophic Cardiomyopathy

Encephalopathy

COX Deficiency

SDHA

Succinate Dehydrogenase Subunit A, Flavoprotein Subunit

Dilated Cardiomyopathy 1GG

Leigh Syndrome

Mitochondrial Respiratory Chain Complex II Deficiency

Paragangliomas 5

SEMA5A

Semaphorin 5A

Congenital Heart Diseases (CHD)

Cri-Du-Chat Syndrome

SFTPA1

Surfactant Protein A1

Idiopathic Pulmonary Fibrosis (IPF)

Newborn Respiratory Distress Syndrome 

SFTPA2

Pulmonary-Associated Surfactant Protein A2

Idiopathic Pulmonary Fibrosis (IPF)
Familial Pulmonary Fibrosis (FPF)

SFTPB

Surfactant Protein B

Idiopathic Pulmonary Fibrosis (IPF)

Pulmonary Surfactant Metabolism Dysfunction Type 1

SFTPC

Pulmonary-Associated Surfactant Protein C

Idiopathic Pulmonary Fibrosis (IPF)
Familial Pulmonary Fibrosis (FPF)

SFTPD

Surfactant Protein D

Idiopathic Pulmonary Alveolar Proteinosis

Wilson-Mikity Syndrome

Aspergillosis

SGCD

Delta-Sarcoglycan

Dilated Cardiomyopathy (DCM)

SGCG

Sarcoglycan, Gamma 

Atrial Arrhythmias

Ventricular Arrhythmias

SHOC2

Homolog of C. elegans Suppressor Of CLEAR

Hypertrophic Cardiomyopathy (HCM)

Noonan Syndrome

SKI

SKI Proto-Oncogene

Congenital Heart Diseases (CHD)

MFAs and Related Disorders

Shprintzen-Goldberg Syndrome

Goldberg-Shprintzen Megacolon Syndrome

SLC25A3

Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier), Member 3

Hypertrophic Cardiomyopathy (HCM)

Mitochondrial Phosphate Carrier Deficiency

SLC2A10

Solute Carrier Family 2,
Facilitated Glucose Transporter,
Member 10

Arterial Tortuosity Syndrome (ATS)
Pulmonary Artery Aneurysm

SMAD3

SMAD3

Type 1 Loeys-Dietz Syndrome

Idiopathic Pulmonary Fibrosis

Aneurysms-Osteoarthritis Syndrome (AOS)

SMAD4

SMAD4

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Myhre Syndrome
Primary Pulmonary Hypertension
Peutz-Jeghers Syndrome

SMAD8

SMAD8

Pulmonary Arterial Hypertension (PAH)

SNTA1

Syntrophin, Alpha 1

Long-QT Syndrome type 12 (LQT12)

SNX3

Sorting Nexin 3

Disorders Related to Congenital Heart Diseases (CHD)

SOS1

Son of Sevenless, Drosophila, Homolog 1

Hypertrophic Cardiomyopathy (HCM)

Gingival Fibromatosis

Noonan Syndrome 4

SOX2

SRY (Sex Determining Region Y)-Box 2

Congenital Heart Diseases (CHD)

Anophthalmia Syndrome

Syndromic Microphthalmia  3

Sox2-Related Eye Disorders

SOX7

SRY (Sex Determining Region Y)-Box 7

Congenital Heart Defects (CHD)

SPEG

SPEG Complex Locus

Congenital Heart Diseases (CHD)

Dilated Cardiomyopathy (DCM)

SPRED1

Sprouty-Related EVH1 Domain-Containing Protein 1

Hypertrophic Cardiomyopathy (HCM)

Legius Syndrome

SURF1

Surfeit Locus
Protein 1

Leigh Syndrome
COX Deficiency

SYNE1

Spectrin Repeat-Containing Nuclear Envelope Protein 1

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 (EDMD4)

Cardiomyopathy

Autosomal Recessive Spinocerebellar Ataxia 8

SYNE2

Spectrin Repeat-Containing Nuclear Envelope Protein 2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 (EDMD5)

Cardiomyopathy

T-Z: Genetic Testing by Individual Gene

Gene

Protein

Associated Disease(s)

TAZ (G4.5)

Tafazzin

Barth Syndrome

Dilated Cardiomyopathy

Left Ventricular Noncompaction

Endocardial Fibroelastosis

TBX1

T-Box 1

Congenital Heart Defects (CHD)

Arrhythmia

Velocardiofacial Syndrome

22q11.2 Duplication

TBX20

T-Box 20

ASD, VSD, Patent Foramen Ovale and Cardiac Valve Defects

TBX3

T-Box 3

Congenital Heart Diseases (CHD)

Ulnar-Mammary Syndrome 

TBX5

T-Box 5

Holt-Oram Syndrome

TCAP

Titin-Cap

Dilated Cardiomyopathy 1N

Limb-Girdle Muscular Dystrophy Type 2G

TCTN3

Tectonic Family Member 3

Arrhythmia

Orofaciodigital Syndrome IV

Joubert Syndrome 18

TERC

Telomerase RNA Component

Idiopathic Pulmonary Fibrosis (IPF)

Familial Pulmonary Fibrosis (FPF)

TERT

Telomerase Reverse Transcriptase

Idiopathic Pulmonary Fibrosis (IPF)

Familial Pulmonary Fibrosis (FPF)

TGFB2

TGF-Beta-2 (TGFB2)

Familial Thoracic Aortic Aneurysm/Dissection (TAAD)

TGFB3

TGF-Beta-3 (TGFB3)

Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 1 (ARVD/C1)

TGFBR1

TGF-Beta Receptor Type 1

Loeys-Dietz Syndrome

Familial Thoracic Aortic Aneurysm/Dissection Type 5 (AAT5)

Furlong Syndrome

TGFBR2

TGF-Beta Receptor Type 2

Loeys-Dietz Syndrome (LSD)

Familial Thoracic Aortic Aneurysm/Dissection Type 3 (AAT3)

Marfan Syndrome (MFS)

TGFBR3

TGF-Beta Receptor Type 3

Cerebral Saccular Aneurysm

Priapism

Aortopathy

THEMIS

Thymocyte Selection Associated

Arrhythmia

TLL1

Tolloid-Like 1

Congenital Heart Diseases (CHD)

Atrial Septal Defect Type 6 (ASD6)

TMEM43

Transmembrane Protein 43

Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 5 (ARVD/C5)

Emery-Dreifuss Muscular Dystrophy 7 (EDMD7)

TMEM70

Transmembrane Protein 70

Hypertrophic Cardiomyopathy
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2

TMPO

Thymopoietin

Dilated Cardiomyopathy 1T

TNNC1

Troponin C Type 1 (Slow)

Dilated Cardiomyopathy 1Z

Familial Hypertrophic 13

TNNI3

Cardiac Troponin I

Dilated Cardiomyopathy 1FF

Dilated Cardiomyopathy 2A

Familial Hypertrophic Cardiomyopathy 7

Familial Restrictive Cardiomyopathy

TNNT2

Cardiac Troponin T2

Dilated Cardiomyopathy 1D

Familial Hypertrophic Cardiomyopathy 2

Familial Restrictive Cardiomyopathy 3

Left Ventricular Noncompaction 6 (LVNC 6)

TNXB

Tenascin XB

Arrhythmia

Autosomal Recessive Ehlers-Danlos Syndrome Due To Tenascin X Deficiency Autosomal Dominant Hypermobility Type Ehlers-Danlos Syndrome

TOPBP1

DNA Topoisomerase II-Binding Protein 1

Pulmonary Arterial Hypertension (PAH)

TPM1

Tropomyosin 1

Dilated Cardiomyopathy 1Y

Familial Hypertrophic Cardiomyopathy 3

Left Ventricular Noncompaction 9 (LVNC 9)

TPM2

Tropomyosin 2 (Beta)

Arrhythmia

TRDN

Triadin

TRDN-Related Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

CPVT5 with or without muscle weakness

TRPM4

Transient Receptor Potential Cation Channel, Subfamily M, Member 2

Brugada Syndrome

Progressive Familial Heart Block Type IB

TSFM

Mitochondrial Ts Translation Elongation Factor

Combined Oxidative Phosphorylation Deficiency 3

Hypertrophic Cardiomyopathy

TTN

Titin

Dilated Cardiomyopathy 1G

Limb-Girdle Muscular Dystrophy Type 2J

Myopathy, early-onset, with fatal cardiomyopathy

Myopathy, proximal, with early respiratory muscle involvement

TTR

Transthyretin

Familial Amyloid Polyneuropathy (FAP)

Cardiomyopathy

Senile Systemic Amyloidosis (SSA)

TWIST1

Twist Family BHLH Transcription Factor 1

Congenital Heart Diseases (CHD)

Saethre-Chotzen Syndrome

Ventricular Septal Defect

Robinow-Sorauf Syndrome

TXNRD2

Thioredoxin Reductase 2

Dilated Cardiomyopathy (DCM)

USF1

Upstream Transcription Factor 1
Type 1

Familial Combined Hyperlipidemia (FCHL)

Familial Hypertriglyceridemia

Coronary Heart Disease, association with

UQCRB

Ubiquinol-Cytochrome C Reductase Binding Protein

Congenital Heart Diseases (CHD)

Mitochondrial Complex III Deficiency Nuclear Type 3

UQCRB-Related Mitochondrial Respiratory Chain Complex III Deficiency

VCL

Vinculin

Dilated Cardiomyopathy 1W

Familial Hypertrophic Cardiomyopathy 15

Left Ventricular Noncompaction (LVNC)

VCP

Valosin Containing Protein

Arrhythmia

Inclusion Body Myopathy with Early-Onset Paget Disease with or without

Frontotemporal Dementia 1 (IBMPFD1)

VHL

Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase

Congenital Heart Diseases (CHD)

Von Hippel-Lindau Syndrome And Chuvash Polycythaemia

XK

McLeod Syndrome-Associated Kell Blood Group Protein

Cardiomyopathy

Mcleod Syndrome

ZFPM2

Zinc Finger Protein, FOG Family Member 2

Congenital Heart Diseases (CHD)

ZIC3

Zic Family Member 3

X-linked Visceral Heterotaxy

Congenital Heart Disease (CHD)

Left-Right Axis Defects

ZMPSTE24

Zinc Metallopeptidase STE24

Congenital Heart Diseases (CHD)

ZNF469

Zinc Finger Protein 469

Congenital Heart Diseases (CHD)

Brittle Cornea Syndrome