Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: NPC1
NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Niemann_Pick type C disease
- Niemann-Pick disease, type D
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Niemann Pick disease type C
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Fetal hydrops
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Lysosomal storage disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
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