Genetics of Cavernoma
Genetic testing can be done to test for the gene mutation.
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However, this is usually only done once a person presents with 2 or more cavernomas or has a family history of them. The results of the test can confirm if it is hereditary.​
‣ The hereditary form of cavernoma is caused by a single gene mutation, or mistake in one of three different
genes, CCM1, CCM2, or CCM3.
‣ People with any of these gene mutations will form multiple cavernomas throughout their lifetime.
‣ A person who carries one of these gene mutations will have a 50% chance of passing the mutation on to their children.
‣ The hereditary form of cavernoma is recognised as a rare disease.
‣ The CCM3 gene is the rarest and the most aggressive. It is estimated that 50 people in Europe have CCM3.
Genetics information booklet:
https://cavernoma.org.uk/wp-content/uploads/2020/02/Genetics-booklet.pdf
Information on the CCM3 gene: