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Haemophagocytic syndrome with absent perforin expression (Version: )

Relevant disorders: R232, GT553, TP366
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
PRF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A