This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Dystonia is a feature of the syndrome. PMID 11567215 suggests there is Juvenile onset of neurological symptoms in 50% of cases, and in infancy in 20% of cases, but do not clarify what constituted neurological symptoms. May be appropriate to include following clinical input.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Niemann-pick disease, type C2, 607625
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Niemann Pick disease type C
- Hyperammonaemia
- Hereditary ataxia
- Lysosomal storage disorder
- Cholestasis
- Adult onset neurodegenerative disorder
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to NPC2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NPC2 was added gene: NPC2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NPC2 was set to