Ketotic hypoglycaemiaGene: PHKA2
Comment on mode of inheritance: Mode of inheritance sourced from OMIM.
Created: 6 Apr 2016, 9:30 a.m.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PHKA2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This proposed gene was validated and added to this panel
PHKA2 was added to Ketotic hypoglycaemiapanel. Sources: Literature