American College Of Medical Genetics & Genomics (ACMG)

The ACMG report covers the list of gene variants recommended for
reporting by the American College of Medical Genetics & Genomics.

What's in the report?

Traits covered in this report include:

Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Familial thoracic aortic aneurysm and dissection (FTAAD), Arrhythmogenic cardiomyopathy, Marfan syndrome*, Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia ,Brugada syndrome, Loeys-Dietz syndrome, Short QT syndrome, Skin fragility-woolly hair syndrome, Familial hypercholesterolemia (FH), Breast-ovarian cancer familial, Cardiac Arrhythmia,Cardiomyopathy, Cardiomyopathy dilated with woolly hair keratoderma, Lethal acantholytic epidermolysis bullosa, Familial hypobetalipoproteinemia, Hypokalemic periodic paralysis, Jervell and Lange-Nielsen syndrome, KCNQ1-related disorders, Lynch syndrome, Malignant hyperthermia susceptibility, Tuberous sclerosis complex, Tuberous sclerosis 1, Tuberous sclerosis 2, Wilson disease, Ornithine carbamoyltransferase deficiency, Ehlers-Danlos syndrome, vascular type, Neurofibromatosis type 1, Neurofibromatosis type 2, Wilms tumor (Nephroblastoma) retinoblastoma, PTEN hamartoma tumor syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Von Hippel-Lindau disease, Peutz-Jeghers syndrome, Juvenile polyposis syndrome, Li-Fraumeni syndrome

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*indicates that the trait/condition is currently not available.

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is associated with an abnormal thickening of the heart muscle, which can make it hard for the heart to pump blood.

Dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is associated with an enlargement of the heart, which can make it hard for the heart to pump blood.

Left ventricular noncompaction cardiomyopathy

Left ventricular noncompaction cardiomyopathy (LVNC) is associated with a problem with the heart muscle that can affect the heart’s ability to pump blood and disrupt the normal electrical signalling of the heart.

Familial thoracic aortic aneurysm and dissection (FTAAD)

FTAAD is a hereditary disorder associated with problems with the large blood vessel that carries blood away from the heart to the rest of the body (aorta).

Arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy (AC) is associated with a replacement of heart tissue with fat and/or fibrous tissue, which can make it hard for the heart to pump blood.

Marfan syndrome*

Marfan syndrome is a hereditary disorder associated with problems with the structure of
connective tissue in many parts of the body, which can cause weakness of the blood vessel walls, dislocation of the lens in the eye (ectopia lentis), and increased flexibility in the joints.

Long QT syndrome

Long QT syndrome (LQTS) is a hereditary disorder associated with a problem with the electrical
system of the heart that controls the heartbeat’s regular rhythm (arrhythmia). LQTS may
increase risk of sudden cardiac arrest or sudden cardiac death at young ages.

Catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary disorder
associated with a problem with the electrical system of the heart that controls the heartbeat’s
regular rhythm (arrhythmia). CPVT typically occurs in response to strenuous physical activity or
heightened emotions and may increase risk of sudden cardiac arrest or death at young ages.

Brugada syndrome

Brugada syndrome is a hereditary disorder associated with a problem with the electrical system
of the heart that controls the heartbeat’s regular rhythm (arrhythmia). Brugada syndrome may
increase risk of sudden cardiac arrest or sudden cardiac death at young ages.

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a hereditary disorder associated with problems with the
structure of connective tissue in many parts of the body, which can cause weakness of the
blood vessel walls, skeletal problems, and abnormal bruising and scarring of the skin.

Short QT syndrome

Short QT syndrome (SQTS) is a hereditary disorder associated with a problem with the electrical system of the heart that controls the heartbeat’s regular rhythm (arrhythmia). SQTS may increase risk of sudden cardiac arrest or death at young ages.

Skin fragility-woolly hair syndrome

Skin fragility-woolly hair syndrome (SFWHS) is an autosomal recessive disease characterized by focal and diffuse palmoplantar keratodqerma (PPK), woolly hair, recurrent bullae, and nail dystrophy, without the presence of cardiomyopathy. It is caused by a homozygous or a compound heterozygous mutation in desmoplakin, a critical component of desmosomes, which bind cells of the epidermis together.

Familial hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) is characterized by severely elevated LDL cholesterol (LDL-C) levels that lead to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age, leading to an increased risk for cardiovascular disease.

Breast-ovarian cancer familial

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.

Cardiac arrhythmia

A cardiac arrhythmia is any abnormal heart rate or rhythm. Cardiac arrhythmia refers to a group of conditions that cause the heart to beat irregular, too slowly, or too quickly. There are several categories of arrhythmia, including: bradycardia, or a slow heartbeat. tachycardia, or a fast heartbeat. irregular heartbeat, also known as a flutter or fibrillation.

Cardiomyopathy

Cardiomyopathy refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments.
In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue.
As cardiomyopathy worsens, the heart becomes weaker. It's less able to pump blood through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats called arrhythmias. In turn, heart failure can cause fluid to build up in the lungs, ankles, feet, legs, or abdomen.

Cardiomyopathy dilated with woolly hair keratoderma

A condition that is characterized by woolly hair, palmoplantar keratoderma and dilated principally affecting the left ventricle.

Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.

Familial hypobetalipoproteinemia

A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

Hypokalemic periodic paralysis

A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.

Jervell and Lange-Nielsen syndrome

A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.

KCNQ1-related disorders

The KCNQ1 gene is associated with autosomal dominant long QT syndrome (LQTS), type 1 (MedGen UID: 19831), atrial fibrillation (MedGen UID: 373232), short QT syndrome (SQTS) (MedGen UID: 355890) and autosomal recessive Jervell and Lange-Nielsen syndrome

Lynch syndrome

A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people.

Malignant hyperthermia susceptibility

Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death

Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

Tuberous sclerosis 1

An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

Tuberous sclerosis 2

Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Ornithine carbamoyltransferase deficiency

An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet.

Ehlers-Danlos syndrome vascular type

A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder.

Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

Wilms tumor

A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

PTEN hamartoma tumor syndrome

PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.

Familial medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2

Multiple endocrine neoplasia type 1

A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

Multiple endocrine neoplasia type 2

A multiple endocrine neoplasia, a polyglandular cancer syndrome. There are two forms of MEN2: MEN2A and MEN2B.

Von Hippel-Lindau disease

VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma.

Peutz-Jeghers syndrome

A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.

Juvenile polyposis syndrome

A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.

Li-Fraumeni syndrome

A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.

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