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Agammaglobulinaemia with absent BTK expression (Version: )

Relevant disorders: R233
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BTK
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A