Early onset dystonia
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
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Niemann Pick disease type C
- Hyperammonaemia
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Neonatal cholestasis
- Ataxia and cerebellar anomalies - narrow panel
- Cholestasis
- Lysosomal storage disorder
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()NPC2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory