Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: NPC1
Comment on list classification: Promoted from red due to expert review. Clear evidence for association with Niemann-Pick disease, however unclear whether this phenotype should be included on this panel.
Created: 12 Oct 2016, 4:03 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for NPC1 were set to Niemann_Pick type C disease;Niemann-Pick disease, type D
NPC1 was created by ellenmcdonagh
NPC1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list