Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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)
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 listCreated: 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
- PMID: 26953272
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Very Early Onset Inflammatory Bowel Disease
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Niemann Pick disease type C
- Hyperammonaemia
- COVID-19 research
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: NPC1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to NPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: npc1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: NPC1.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NPC1 were set to PMID: 26953272
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