Inheritance qualifier Imprinted 2022-09-04T13:13:25Z Imprinting disorders can be caused by a variety of mutational mechanisms (including copy number variants, nucleotide variants, and abnormal imprinting patterns) thus requiring some care when designing analytic pipelines. Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.