This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Niemann Pick disease type C
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Neonatal cholestasis
- Lysosomal storage disorder
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NPC2 was added gene: NPC2 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: NPC2 was set to Unknown Phenotypes for gene: NPC2 were set to Dystonia