Genomics England
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Genes and Entities

Acute intermittent porphyria (Version: )

Relevant disorders: R169, GT220, TP313
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
HMBS
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A