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CADASIL (Version: )

Relevant disorders: R337
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
NOTCH3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeQ2_26_MOI