Early-onset Parkinson disease
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Parkinsonism also reported in heterozygotes.Created: 19 Jul 2022, 9:19 a.m. | Last Modified: 19 Jul 2022, 9:19 a.m.
Panel Version: 0.181
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, MIM# 257220
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Niemann-Pick disease, MIM# 257220
- Parkinsonism
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npc1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NPC1 were changed from Niemann Pick C1; Parkinsonism; OMIM 257220 to Niemann-Pick disease, MIM# 257220; Parkinsonism
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NPC1 were set to PMID: 24035292
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: NPC1 was added gene: NPC1 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to PMID: 24035292 Phenotypes for gene: NPC1 were set to Niemann Pick C1; Parkinsonism; OMIM 257220 Review for gene: NPC1 was set to GREEN