Bloom syndrome
Inheritance
Is there variable expression or incomplete penetrance in Bloom syndrome?
People who receive two copies of the BLM gene with changes known to cause the disease will have Bloom syndrome.
References
More Inheritance Content
If this is a predisposition gene, what are the chances I will get Bloom syndrome?
How is Bloom syndrome inherited?
What does it mean to have a “variant” in the gene for Bloom syndrome?
If this is a predisposition gene, what are the chances I will get Bloom syndrome?
People who receive two copies of the BLM gene with changes known to cause the disease will have Bloom syndrome.
References
How is Bloom syndrome inherited?
Bloom syndrome is inherited in an autosomal recessive pattern meaning that both copies of the BLM gene in every cell have changes. Both parents of the person with Bloom syndrome carry one copy of the changed gene, but do not show symptoms of the condition themselves.
Each pregnancy between the parents of the affected child or who are both carriers for Bloom syndrome will have a 25% (1 in 4) chance of receiving two copies of the gene change causing that child to have Bloom syndrome, a 50% (1 in 2) of receiving one copy of the gene change causing that child to be a carrier, and 25% (1 in 4) chance of receiving two BLM gene copies with no changes.
References
What does it mean to have a “variant” in the gene for Bloom syndrome?
Having a “variant” in the genes responsible for Bloom syndrome (BLM) means that the gene contains a change that currently doesn’t have enough research or evidence to say whether it can cause Bloom syndrome. As more research is performed, the “variant” may be classified as disease causing (pathogenic or deleterious) or not disease causing (benign).
