Alpha-mannosidosis

Inheritance

How is Alpha-mannosidosis inherited?

Alpha-mannosidosis is inherited in an autosomal recessive pattern. This means that both copies of a person's MAN2B1 genes must have changes in them for that person to have Alpha-mannosidosis.

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What does it mean to have inherited a "variant" in the gene for Alpha-mannosidosis?

What does it mean to have inherited a "variant" in the gene for Alpha-mannosidosis?

A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease causing), pathogenic (disease causing), or of unknown significance (possibly disease causing). Looking at a person's genetic testing report can be helpful to know what type of variant or genetic change someone has inherited for Alpha-mannosidosis. If a person has Alpha-mannosidosis, they have two different disease causing variants in their MAN2B1 genes.

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