Ataxia and cerebellar anomalies - 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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Niemann-Pick disease type C2, 607625
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - childhood onset
- Cholestasis
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Niemann Pick disease type C
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2 (#607625) to Niemann-Pick disease type C2, 607625
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPC2 was added gene: NPC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)