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Primary immunodeficiency

Gene: NPC1

Amber List (moderate evidence)

NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Kelsey Jones (Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
Very Early Onset Inflammatory Bowel Disease

Publications

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: npc1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: NPC1.

1 Feb 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NPC1 were set to PMID: 26953272

29 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Kelsey Jones (Great Ormond Street Hospital)

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