This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Niemann Pick disease type C
- Hyperammonaemia
- Hereditary ataxia with onset in adulthood
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Neonatal cholestasis
- Ataxia and cerebellar anomalies - narrow panel
- Cholestasis
- Lysosomal storage disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NPC1 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)NPC1 was created by Sarah Leigh