Cecilia S. L. Lai Created 2026-10-24 Updated 2026-11-05
Inherited disorder Created 2026-10-20 Updated 2026-11-05
An inherited disorder is a disorder associated with a genetic variant transmitted from a parent. Dominant, recessive and sex-linked patterns describe different relationships between inheritance and expression. Inherited risk need not imply certainty of disease because penetrance, other genes and environment can affect the outcome. A genetic condition caused by a new mutation in an individual is genetic without necessarily having been inherited from a parent. [ref]
Talking Glossary of Genomic and Genetic Terms by NHGRI. Inherited; Genetic Disorder; Penetrance entry
Sickle cell disease Created 2026-10-20 Updated 2026-11-05
An inherited disorder caused by pathogenic variation in beta-globin, classically the haemoglobin-S substitution. Genotyping detects the allele; interpretation also depends on the other inherited globin allele.