G6PD
HGNC ↗2 article(s) in the watch · Constitutional genetics · Bioinformatics & AI
G6PD encodes the enzyme protecting red blood cells from oxidative stress. Its X-linked deficiency predisposes to acute haemolysis.
Curated publications
Evidence for G6PD variant classification from multiplexed functional assays.
G6PD deficiency
To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.
G6PD deficiency and genomic newborn screening
Frequently asked questions
How is a G6PD-related condition inherited?+
X-linked recessive
What is the clinical spectrum associated with G6PD?+
Acute haemolysis (favism, oxidant drugs), neonatal jaundice
What is the management associated with G6PD?+
Avoidance of oxidant agents (incl. primaquine, rasburicase); screening before selected prescriptions.
How many Geno'X publications cover the G6PD gene?+
2 publication(s) on G6PD have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics, Bioinformatics & AI).
