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.
NPC can occasionally cause liver failure in infancy so hyperammonaemia possible in this context
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Niemann-Pick C Type 1
Promoted to version 1 on 22nd November 2016
NPC1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory