Genetic heterogeneity

Genetic heterogeneity is the phenomenon in which variants in different genes produce similar or overlapping clinical conditions. It includes distinct genetic causes of the same disorder and genetic causes that produce related phenotypes.

Locus heterogeneity: The production of a similar phenotype by pathogenic variants at different genetic loci. It is the form of heterogeneity in which different genes cause the same disorder.
Differential diagnosis: The process of distinguishing among conditions that could explain a patient's signs and symptoms. Overlapping genetic disorders make clinical features alone insufficient for identifying a cause.
Gene: A unit of heredity consisting of DNA sequences that contribute to functional products or regulation. Different genes are the distinct genetic locations whose variants can yield similar conditions.
Hereditary deafness: Hearing loss caused by inherited genetic variants. Variants in many different genes can cause similar forms of inherited hearing loss.
Allelic heterogeneity: The production of different phenotypes, or the same phenotype, by distinct variants in one gene. It contrasts different-gene causes with multiple disease-causing variants in a single gene.
Clinical genetic testing: Testing used to identify genetic variants relevant to diagnosis, prognosis, or medical care. Testing can distinguish among different genetic causes of a shared clinical picture.
Genetic variant: A difference in DNA sequence compared with a reference sequence or other individuals. Variants are the changes whose distribution across genes underlies genetic heterogeneity.
Retinitis pigmentosa: A group of inherited retinal disorders marked by progressive photoreceptor degeneration. Numerous genes can produce a closely similar progressive retinal phenotype.
Genotype–phenotype correlation: The relationship between genetic variation and observable traits or disease features. It describes how distinct genetic causes can map to overlapping clinical presentations.
Whole-exome sequencing: A method that sequences most protein-coding regions of the genome. It can examine many candidate genes when the phenotype does not point to one locus.

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