Ataxia - paediatric
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ataxia can be a prominent and presenting feature of Niemann-Pick disease. Both paediatric and adult-onset ataxia has been reported with high prevalence.Created: 13 Oct 2022, 2:13 a.m. | Last Modified: 13 Oct 2022, 2:13 a.m.
Panel Version: 0.348
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1 MONDO:0009757; ataxia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Niemann-Pick disease type C1, 257220
- Niemann-Pick disease types C1 and D (#257220)
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: npc1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: NPC1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NPC1 was added gene: NPC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, 257220; Niemann-Pick disease types C1 and D (#257220)