Niemann Pick disease type C
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #257220) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:24 a.m. | Last Modified: 29 Dec 2025, 11:24 a.m.
Panel Version: 1.2
NPC1 has been added to the panel for R380 Niemann Pick disease type C with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:15 p.m. | Last Modified: 30 Jun 2023, 3:15 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Niemann-Pick disease, type C1, OMIM:257220
- Niemann-Pick disease, type D, OMIM:257220
- Niemann-Pick disease, type C1, MONDO:0009757
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1, OMIM:257220; Niemann-Pick disease, type D, OMIM:257220; Niemann-Pick disease, type C1, MONDO:0009757
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: NPC1 was added gene: NPC1 was added to Niemann Pick disease type C. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal