Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: NPC1

Amber List (moderate evidence)

NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Neil shah (GOSH)

Green List (high evidence)

History Filter Activity

14 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Oct 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NPC1 were set to Niemann_Pick type C disease;Niemann-Pick disease, type D

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NPC1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NPC1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list