Incidentalome
Gene: NPC1

NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

NPC is a slowly progressive lysosomal disorder with subtle cognitive impairment in affected individuals at first which progresses to dementia during the disease course. NPC type 1 is also known as "juvenile alzheimers disease". LoF is the mechanism of disease.

PMID: 11182931
reported in one individual with NPC and dementia as a phenotype.
Created: 14 Aug 2023, 6 a.m. | Last Modified: 15 Aug 2023, 4:15 a.m.

Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type C1 (MIM#257220; MONDO:0009757)

Publications

Created: 14 Aug 2023, 6 a.m.
Last Modified: 15 Aug 2023, 4:15 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.179

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

607623

Clinvar variants

Variants in NPC1

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPC1 was added gene: NPC1 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPC1 was set to Unknown

Incidentalome Gene: NPC1