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Lymphoproliferative syndrome with absent SAP expression (Version: )

Relevant disorders: R17, GT392, TP296
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
SH2D1A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A