Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Niemann-Pick disease types C1 and D (#257220)
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Leukodystrophy, adult onset
- Lysosomal storage disorder
- Intellectual disability
- Cholestasis
- COVID-19 research
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Niemann Pick disease type C
- Fetal hydrops
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Fetal anomalies
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.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPC1 was added gene: NPC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)