Genomics England
GMS Panels
Panels
Genes and Entities
Acute intermittent porphyria (Version:
2.0
1.0
)
Relevant disorders:
R169
Signed off date:
6 May 2026
Panel types:
GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
HMBS
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
N/A
N/A