Primary immunodeficiencyGene: NPC1
Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the expert review and available evidence, this gene is recommended to be Green at the next review.
Created: 1 Feb 2021, 1:42 p.m. | Last Modified: 1 Feb 2021, 1:42 p.m.
Panel Version: 2.398
Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). 14 patients with defects in NPC1 presenting with severe Crohn's-like intestinal inflammation described in PMID: 26953272. Mechanism suggested to involve defective bacterial handling by macrophages. Estimated 3-7% penetrance of intestinal inflammation in patients with Niemann-Pick type C disease (same reference). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert list
Created: 29 Jan 2021, 2:56 p.m. | Last Modified: 29 Jan 2021, 3:15 p.m.
Panel Version: 2.392
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Very Early Onset Inflammatory Bowel Disease
Gene: npc1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NPC1.
Publications for gene: NPC1 were set to PMID: 26953272
gene: NPC1 was added gene: NPC1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to PMID: 26953272 Phenotypes for gene: NPC1 were set to Very Early Onset Inflammatory Bowel Disease Penetrance for gene: NPC1 were set to Incomplete Review for gene: NPC1 was set to GREEN