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Peer-Reviewed Publication
Mol Genet Metab2026;148(3):110136.July 1, 2026Journal Article

Updates to gene-disease classifications and inheritance patterns for porphyrias.

Emily Brown Reeves1, William Hankey2, Pepper St Clair3, Jennifer L Goldstein3, Matheus Vernet Machado Bressan Wilke4, Annette Feigenbaum5, Christina Hung6, Elaine Spector7, William J Craigen8
1Nutriplexity, Bremerton, WA, United States. Electronic address: info@nutriplexity.com.
2University of North Carolina at Chapel Hill, Chapel Hill, NC, United States. Electronic address: william_hankey@med.unc.edu.
3University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
4Washington University, St. Louis, MO, United States.
5Rady Children's Hospital and University of California San Diego, Division of Genetics, United States.
6Labcorp (formerly Invitae Corp.), San Francisco, CA, United States.
7University of Colorado Anschutz School of Medicine, United States.
8Baylor College of Medicine, Houston, TX, United States. Electronic address: wcraigen@bcm.edu.
PubMed PMC DOI PDF

Abstract

The heme synthesis pathway consists of eight enzyme-catalyzed steps, and pathogenic variants in the genes encoding these enzymes cause porphyrias. Diagnosis of certain porphyrias is often significantly delayed, due to their episodic and nonspecific symptoms that mimic more common conditions. To improve genetic diagnostics, which are increasingly used as a first-line approach, the ClinGen General I…

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