Dystonia - complex
Gene: NPC2EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with Niemann-Pick affected individuals presenting with features of dystonia.
PMID: 34993563 - 11 NPC-affected individuals presented with generalised dystonia with either homozygous or compound heterozygous variants.
PMID: 17470133 - Turkish individual presenting with a range of neurological symptoms at the age of 12 - tremor, speech issues, mental retardation and severe dystonia.
Homozygous P120S was identified.Created: 10 Dec 2024, 1:47 a.m. | Last Modified: 10 Dec 2024, 1:47 a.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C2 MONDO:0011873
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Niemann-Pick disease, type C2 MONDO:0011873
- Dystonia
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npc2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2; Dystonia to Niemann-Pick disease, type C2 MONDO:0011873; Dystonia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NPC2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NPC2 was added gene: NPC2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,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; Dystonia