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Variegate porphyria (Version: )

Relevant disorders: R170, GT283, TP430
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
PPOX
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ3_25_MOI