| ACMG (American College of Medical Genetics and Genomics) |
A professional organization that sets standards and guidelines for interpreting genetic information in medicine. |
| APOB (Apolipoprotein B) |
A key protein in the blood that helps carry cholesterol and other fats through the body. |
| Array |
A laboratory tool that tests many genes or DNA segments at once to find variations or patterns. |
| Assay |
A laboratory test used to measure or detect a specific biological substance. |
| Autosomal |
Refers to any of the chromosomes that are not sex chromosomes (X or Y). |
| Binding |
The process of one molecule attaching to another, often like a key fitting into a lock. |
| Biomarker |
A measurable substance in the body that indicates a normal process, disease, or response to treatment. |
| cDNA (complementary DNA) |
A form of DNA made from messenger RNA, used to study gene activity. |
| Cis/trans |
Terms that describe whether two genetic variants are on the same chromosome (cis) or on opposite ones (trans). |
| Chip |
A small device used in genetic testing that can analyze thousands of DNA variants at once. |
| Cholesterol |
A fatty substance in the blood that is essential for building cells but can cause problems if levels are too high. |
| ClinGen (Clinical Genome Resource) |
A global project that collects and shares information about how genetic variants relate to health. |
| ClinVar |
A public database that stores information about the relationships between genes and diseases. |
| Coding |
Refers to the parts of DNA that contain instructions for making proteins. |
| Codon |
A sequence of three DNA or RNA bases that codes for a single amino acid in a protein. |
| Cytometry |
A technique for measuring physical and chemical properties of cells, often using lasers. |
| Delphi study |
A structured method of gathering expert opinions to reach agreement on complex topics. |
| Disorder |
A condition in which normal bodily functions are disrupted, often due to genetic or environmental causes. |
| Dominant |
Describes a gene variant that shows its effect even when only one copy is present. |
| ELISA (Enzyme-Linked Immunosorbent Assay) |
A common lab test used to detect proteins, antibodies, or hormones in a sample. |
| Exons |
The coding sections of a gene that carry the instructions for making proteins. |
| FH (Familial Hypercholesterolaemia) |
An inherited condition that causes very high cholesterol levels and increases the risk of heart disease. |
| FH VCEP (Familial Hypercholesterolaemia Variant Curation Expert Panel) |
A group of specialists that reviews and classifies genetic variants linked to FH. |
| Functional |
Describes a test or effect that shows how a gene or protein actually works in the body. |
| Genetic |
Relating to genes or heredity - how traits and conditions are passed from parents to children. |
| Genomic |
Referring to the entire set of genes (the genome) and how they interact and function together. |
| Heterozygous |
Having two different versions (alleles) of a gene, one from each parent. |
| Heterologous |
Coming from a different source or species; often used when referring to proteins or DNA used in lab experiments. |
| Homozygous |
Having two identical versions (alleles) of a gene. |
| Hypercholesterolaemia |
A condition where cholesterol levels in the blood are higher than normal. |
| Hypocholesterolaemia |
A condition where cholesterol levels in the blood are lower than normal. |
| Indels |
Small insertions or deletions of DNA bases in a gene sequence. |
| LDLR (Low-Density Lipoprotein Receptor) |
A protein that helps remove “bad” cholesterol (LDL) from the blood. |
| Lipid |
A type of fat or fat-like molecule that’s important for energy storage and cell structure. |
| Luciferase |
An enzyme that produces light and is often used in lab tests to measure gene activity. |
| Meiosis |
A special type of cell division that creates eggs and sperm, each with half the normal number of chromosomes. |
| Minigene |
A simplified version of a gene used in lab experiments to study how it functions. |
| Missense |
A type of genetic variant that changes one amino acid in a protein. |
| mRNA (messenger RNA) |
The molecule that carries genetic instructions from DNA to make proteins. |
| Nonsense |
A type of genetic variant that creates a premature stop signal, leading to a shortened, non-functional protein. |
| Normolipidemics |
People with normal levels of lipids (fats) in their blood. |
| Pathogenic |
Describes a variant or microorganism that causes disease. |
| Phenotype |
The visible or measurable traits of an organism, shaped by genes and environment. |
| PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) |
A protein that controls how much LDL receptor is available to clear cholesterol from the blood. |
| PM (Personalised Medicine) |
A medical approach that tailors treatment and prevention to an individual’s genetic makeup. |
| Promoters |
DNA regions that control when and how much a gene is turned on. |
| PS3 Criterion |
A guideline used by genetic experts to classify variants based on strong laboratory evidence of their effect. |
| Sequenced |
When the order of DNA bases in a gene or genome has been determined. |
| Semidominant |
Describes a gene where having one copy of a variant causes a milder effect than having two. |
| Silent (variants) |
DNA changes that do not alter the resulting amino acid or protein function. |
| Splicing |
The process of cutting and joining RNA pieces to form a final message for making a protein. |
| SP1 |
A protein that binds to DNA to help control gene activity. |
| SREBP1/2 (Sterol Regulatory Element-Binding Proteins 1 and 2) |
Proteins that help regulate how the body makes and processes cholesterol and fats. |
| Statins |
Medicines that lower cholesterol by blocking an enzyme needed for its production. |
| Translation |
The process by which cells use mRNA instructions to build proteins. |
| Transcription |
The first step of gene expression, where DNA is copied into mRNA. |
| uAUG (Upstream AUG) |
A start signal found before the main coding region of a gene that can affect protein production. |
| Uptake |
The process of taking substances (like cholesterol) into cells. |
| 5′UTRs (5′ Untranslated Regions) |
Sections of a gene before the coding region that help control how a protein is made. |
| Variants (gene) |
Changes in the DNA sequence that can affect how a gene works. |
| VUS (Variant of Uncertain Significance) |
A genetic change whose impact on health is not yet known. |
| Wildtype |
The normal, most common version of a gene found in the general population. |
