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Cardiovascular & Lipid Metabolism Genes

1. ABCC9 (ATP Binding Cassette Subfamily C Member 9) – Involved in potassium ion transport; mutations are linked to dilated cardiomyopathy and Cantu syndrome.

2. ABCG5 / ABCG8 (ATP Binding Cassette Subfamily G Members 5 & 8) – Regulate cholesterol transport; mutations cause sitosterolemia, leading to cholesterol accumulation.

3. ACTA1 (Actin Alpha 1, Skeletal Muscle) – Affects muscle function; mutations cause congenital myopathies.

4. ACTA2 (Actin Alpha 2, Smooth Muscle) – Involved in vascular integrity; mutations cause thoracic aortic aneurysms.

5. ACTC1 (Actin Alpha Cardiac Muscle 1) – Essential for heart function; mutations cause hypertrophic cardiomyopathy.

6. ACTN2 (Alpha-Actinin-2) – Structural protein in muscle cells; mutations cause cardiomyopathies.

7. AKAP9 (A-Kinase Anchoring Protein 9) – Regulates heart rhythm; mutations are linked to long QT syndrome.

8. ALMS1 (Alström Syndrome Protein 1) – Mutations cause Alström syndrome, affecting multiple organ systems.

9. ANK2 (Ankyrin-2) – Essential for cardiac electrical signalling; mutations cause arrhythmias.

10. ANKRD1 (Ankyrin Repeat Domain 1) – Regulates cardiac muscle function; linked to cardiomyopathies.

11. APOA4 / APOA5 / APOB / APOC2 / APOE – Key in lipid metabolism; mutations increase the risk of cardiovascular diseases and cholesterol disorders.

Cancer & Tumour Suppressor Genes

1. BAG3 (Bcl-2 Associated Athanogene 3) – Involved in apoptosis and muscle homeostasis; mutations cause cardiomyopathy.

2. BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) – A proto-oncogene; mutations are linked to melanoma and colorectal cancer.

3. CBL (Cbl Proto-Oncogene) – Regulates cell signalling; mutations are associated with myeloid leukaemia.

4. CETP (Cholesteryl Ester Transfer Protein) – Affects HDL cholesterol levels and cardiovascular risk.

Structural & Connective Tissue Genes

1. COL3A1 / COL5A1 / COL5A2 – Involved in collagen synthesis; mutations cause Ehlers-Danlos syndrome, affecting skin, joints, and vessels.

2. COX15 (Cytochrome C Oxidase Assembly Factor) – Essential for mitochondrial function; mutations cause metabolic disorders.

Cardiac & Muscular Function Genes

1. CREB3L3 / CRELD1 – Affect heart development; mutations contribute to congenital heart defects.

2. CRYAB (Crystallin Alpha B) – A heat-shock protein; mutations cause cardiomyopathies.

3. CSRP3 (Cysteine and Glycine-Rich Protein 3) – Regulates heart and skeletal muscle; linked to hypertrophic cardiomyopathy.

4. DES (Desmin) – Structural protein in muscle cells; mutations cause cardiomyopathies.

5. DMD (Dystrophin) – Mutations cause Duchenne and Becker muscular dystrophy.

6. DSC2 / DSG2 / DSP – Components of desmosomes; mutations cause arrhythmogenic right ventricular cardiomyopathy (ARVC).

7. ELN (Elastin) – Essential for connective tissue; mutations cause supravalvular aortic stenosis.

8. EMD (Emerin) – Mutations cause Emery-Dreifuss muscular dystrophy.

9. FBN1 / FBN2 (Fibrillin 1 & 2) – Key in connective tissue; mutations cause Marfan syndrome and congenital contractural arachnodactyly.

Metabolic & Endocrine Genes

1. GAA (Alpha-Glucosidase) – Deficiency causes Pompe disease, leading to muscle weakness.

2. GCKR (Glucokinase Regulatory Protein) – Regulates glucose metabolism; mutations increase diabetes risk.

3. GLA (Alpha-Galactosidase A) – Deficiency causes Fabry disease, affecting the kidneys, heart, and skin.

4. HFE (Homeostatic Iron Regulator) – Mutations cause hereditary haemochromatosis, leading to iron overload.

Electrical Conductivity & Ion Channel Genes

1. HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4) – Regulates heart rhythm; mutations cause bradycardia.

2. JPH2 (Junctophilin 2) – Essential for cardiac muscle contraction; mutations cause cardiomyopathy.

3. KCNA5 / KCND3 / KCNE1 / KCNE2 / KCNE3 / KCNH2 / KCNJ2 / KCNJ5 / KCNQ1 – Potassium ion channels; mutations lead to arrhythmias and long QT syndrome.

Proto-Oncogenes & Cell Growth Regulators

1. HRAS / KRAS / NRAS – Proto-oncogenes regulating cell growth; mutations are common in cancers like melanoma and colorectal cancer.

2. LMNA (Lamin A/C) – Affects nuclear structure; mutations cause various muscular dystrophies and cardiomyopathies.

3. MAP2K1 / MAP2K2 (Mitogen-Activated Protein Kinase 1 & 2) – Regulate cell signalling; mutations are linked to Noonan syndrome and cancers.

Cardiomyopathy & Heart Disease Genes

1. MYBPC3 / MYH6 / MYH7 / MYL2 / MYL3 – Major components of heart muscle; mutations cause hypertrophic cardiomyopathy.

2. NEXN (Nexilin) – Supports heart muscle function; mutations cause dilated cardiomyopathy.

3. NKX2-5 / NOTCH1 – Critical for heart development; mutations cause congenital heart disease.

4. PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) – Regulates cholesterol levels; mutations affect cardiovascular disease risk.

Neurodevelopment & Muscular Genes

1. PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2) – Involved in energy regulation; mutations cause cardiac hypertrophy.

2. PRKAR1A (Protein Kinase A Regulatory Subunit 1 Alpha) – Mutations cause Carney complex, affecting endocrine glands.

3. PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) – Mutations cause Noonan syndrome, affecting heart development.

Sarcomere & Structural Heart Genes

1. RYR1 / RYR2 (Ryanodine Receptor 1 & 2) – Regulate calcium release in muscle; mutations cause malignant hyperthermia and arrhythmias.

2. SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) – Regulates heart rhythm; mutations cause Brugada syndrome and arrhythmias.

3. SMAD3 / SMAD4 – Involved in connective tissue disorders and aortic aneurysms.

Congenital & Structural Heart Disorders

1. TBX20 / TBX3 / TBX5 (T-Box Transcription Factors 20, 3, 5) – Involved in heart development; mutations cause congenital heart defects.

2. TGFB2 / TGFB3 / TGFBR1 / TGFBR2 (Transforming Growth Factor Beta 2, 3, Receptor 1 & 2) – Regulate tissue development; mutations cause Loeys-Dietz syndrome, leading to vascular abnormalities.

3. TTN (Titin) – A key structural muscle protein; mutations are linked to dilated cardiomyopathy.

Miscellaneous

1. TTR (Transthyretin) – Mutations cause hereditary amyloidosis, affecting nerves and the heart.

2. TXNRD2 (Thioredoxin Reductase 2) – Involved in oxidative stress response; mutations affect heart function.

3. VCL (Vinculin) – A cytoskeletal protein; mutations cause dilated cardiomyopathy.