Hyperammonaemia
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
NPC can occasionally cause liver failure in infancy so hyperammonaemia possible in this contextCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann Pick C Type 2
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Niemann Pick disease type C
- Hyperammonaemia
- Hereditary ataxia
- Fetal anomalies
- Lysosomal storage disorder
- Cholestasis
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Neonatal cholestasis
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NPC2 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory