Incidentalome
Gene: NPC2
NPC2 (NPC intracellular cholesterol transporter 2)
EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Progressive dementia is a neurological feature of NPC disease.Created: 15 Aug 2023, 4:23 a.m. | Last Modified: 15 Aug 2023, 4:23 a.m.
Panel Version: 0.179
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-pick disease, type C2 MIM#607625
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Prepair 500+
- Ataxia - paediatric
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: NPC2 was added gene: NPC2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPC2 was set to Unknown