Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Hyperamonaemia could be present in the very few that develop cirrhosis and liver failure
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glycogen debranching enzyme deficiency, glycogen storage disease type III
Promoted to version 1 on 22nd November 2016
AGL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory