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Pediatrics - Cardiology

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Pediatrics - Cardiology
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Genetic Testing by Individual Gene

Gene Protein Associated Disease(s)
ABCA1 ATP-Binding Cassette Sub-Family A (ABC1),
Member 1
Tangier's Disease
HDL Deficiency Type 2
Familial Hypercholesterolemia
ABCG5 ATP-Binding Cassette Sub-Family G (WHITE)
Member 5
Sitosterolemia
Atheroschlerosis, Association With
ABCG8 ATP-Binding Cassette Sub-Family G (WHITE)
Member 8
Sitosterolemia
ACTA2 Smooth Muscle
Alpha Actin
Familial Thoracic Aortic Aneurysm/Dissection Type 6 (AAT6)
AKAP9 A-kinase Anchoring
Protein 9
Long QT Syndrome Type 11 (LQT11)
ACVRL1 Activin receptor-like kinase 1 Pulmonary Arterial Hypertension (PAH)
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)
APOA1 Apolipoprotein A-1 Familial Hypoalphalipoproteinemia
Tangier's Disease
Familial Visceral Amyloidosis (Ostertag Type)
APOA2 Apolioprotein A-II Apolipoprotein A-II Deficiency
Hypercholesterolemia
APOA5 Apolioprotein A-V Hypertriglyceridemia
Hyperlipoproteinemia
APOB Apolioprotein B Type B Autosomal Dominant Hypercholesterolemia
Type 1 Familial Hypobetalipoproteinemia
APOC2 Apolioprotein C-II Apolipoprotein C-II Deficiency
Type 1 Hyperlipoproteinemia Type IB
APOE Apolioprotein E Familial Dysbetalipoproteinemia
Type II Hyperlipoproteinemia (HLPIII)
BMPR2 BMPR2 Pulmonary Arterial Hypertension (PAH)
CACNA1B CACNA1B Short QT Syndrome (SQTS)
CACNA1C CACNA1C Long QT Syndrome Type 8 (LQT8)
Short QT Syndrome (SQTS)
CACNB2 CACNB2 Brugada Syndrome Type 4
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)
COL3A1 Collagen, Type III
Alpha 1
Ehlers-Danlos Syndrome Types IV (EDS IV)
Aortic and Arterial Aneurysms
DES Desmin Desmin-related Myopathy
Dilated Cardiomyopathy
Cardiomyopathy
Distal Myopathy
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
EMD Emerin Emery-Dreifuss Muscular Dystrophy
ENG Endoglin Pulmonary Arterial Hypertension (PAH)
EPHX2 Cytoplasmic Epoxide Hydrolase 2 Hypercholesterolemia, Association With
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
GATA4 GATA4 Atrial Septal Defect Type 2 (ASD2)
Atrioventricular Septal Defect Type 4
Ventricular Septal Defect Type 1
GDF2 Growth Differentiation Factor 2 Pulmonary Arterial Hypertension (PAH)
Heriditary Hemorrhagic Telangiectasia Syndrome(HHT)
GPD1L GPD1L Brugada Syndrome Type 2
Sudden Infant Death Syndrome (SIDS)
HCN4 Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium Channel 4 Brugada Syndrome Type 8
Sick Sinus Syndrome 2
JUP Junction Plakoglobin Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 12 (ARVD/C12)
Naxos Disease
KCNA5 Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 5 Pulmonary Arterial Hypertension (PAH)
Familial Atrial Fibrillation Type 7
KCND3 Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 3 Brugada Syndrome
KCNE1 Potassium Voltage-gated Channel,
Isk-related Family, Member 1
Long QT Syndrome Type 5 (LQT5)
Jervell and Lange-Nielsen Syndrome (JLNS)
KCNE2 Potassium Voltage-gated Channel
Subfamily E Member 2
Long QT Syndrome Type 6 (LQT6)
Romano-Ward Syndrome
Familial Atrial Fibrillation (FAF)
KCNE3 Potassium Voltage-gated Channel
Subfamily E Member 3
Brugada Syndrome Type 6
KCNH2 KCNH2 Long QT Syndrome Type 2 (LQT2)
Short QT Syndrome (SQTS)
Sudden Cardial/Infant Death Syndrome (SIDS)
KCNJ2 Kir2.1 Andersen-Tawil Syndrome
Long QT Syndrome Type 7 (LQT7)
KCNJ5 Potassium Inwardly-rectifying Channel,
Subfamily J, Member 5 (GIRK4)
Long QT Syndrome Type 13 (LQT13)
KCNJ8 Potassium Inwardly-Rectifying Channel, Subfamily J, Member 8 Sudden Infant Death Syndrome (SIDS)
J-Wave Syndromes
KCNK3 Potassium Channel, Subfamily K, Member 3 Pulmonary Arterial Hypertension (PAH)
KCNQ1 KCNQ1 Long QT Syndrome Type 1 (LQT1)
CPVT and Other Arrhythmia Disorders
Sudden Cardial/Infant Death Syndrome (SIDS)
Short QT Syndrome (SQTS)
Familial Atrial Fibrillation (FAF)
LAMP2 LAMP-2 Danon Disease
Hypertrophic or Dilated Cardiomyopathy with Skeletal Myopathy and/or Wolff-Parkinson-White Syndrome
LCAT Lecithin-Cholesterol Acyltransferase (LCAT) Norum Disease (LCAT Deficiency)
Fish-Eye Disease
LDLR Low Density Lipoprotein Receptor Familial Hypercholesterolemia
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
MTTP Microsomal Triglyceride Transfer Protein (MTTP) Metabolic Syndrome, Association With
Abetalipoproteinemia, Association With
MYH11 Myosin Heavy
Chain 11
Familial Thoracic Aortic Aneurysm/Dissection Type 4 (AAT4)
MYLK Myosin Light Chain Kinase Familial Aortic Dissection
Familial Thoracic Aortic Aneurysm 7 (AAT7)
NKX2.5 Homeobox
Protein Nkx-2.5
Isolated Nonsyndromic Congenital Heart Disease/Defects
NOTCH1 NOTCH1 Bicuspid Aortic Valve (BAV)
Hypoplastic Left Heart Syndrome
Ventricular Septal Defects (VSD)
Tetralogy of Fallot (TOF)
NPC1 Niemann-Pick Disease, Type C1 Niemann-Pick Disease Type C1
Niemann-Pick Disease Type D
PCSK9 Proprotein Convertase Subtilisin/Kexin Type 9 Familial Hypercholesterolemia 3
PKP2 Plakophilin 2 Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 9 (ARVD/C9)
PKP4 Plakophilin 4 Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
PNPLA3 Patatin-Like Phospholipase Domain Containing 3 Fatty Liver Disease, Association With
Nonalchoholic 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
PRKG1 cGMP-Dependent Protein Kinase Type I Aortic Aneurysm and Dissection
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)
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 Protein
Homolog
Hypertrophic Cardiomyopathy
Encephalopathy
COX 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/Heriditary 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)
SURF1 Surfeit Locus
Protein 1
Leigh Syndrome
COX Deficiency
TAZ (G4.5) Tafazzin Barth Syndrome
Dilated Cardiomyopathy
Left Ventricular Noncompaction
Endocardial fibroelastosis
TBX5 TBX5 Holt-Oram Syndrome
TBX20 TBX20 ASD, VSD, Patent Foramen Ovale and Cardiac Valve Defects
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)
TMEM43 Transmembrane Protein 43
Type 1
Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 5 (ARVD/C5)
Emery-Dreifuss Muscular Dystrophy 7 (EDMD7)
USF1 Upstream Transcription Factor 1
Type 1
Familial Combined Hyperlipidemia (FCHL)
Familial Hypertriglyceridemia
Coronary Heart Disease, Association With
ZASP (LDB3) LIM Domain-Binding
Protein 3
Dilated Cardiomyopathy
Left Ventricular Noncompaction
Myofibrillar Myopathy

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