Congenital ophthalmoplegia
Gene: NPC1
NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
Well established gene-disease association.
Vertical supranuclear gaze palsy is an early manifestation in childhood-onset type.
Sources: LiteratureCreated: 16 Nov 2020, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C, 257220
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Niemann-Pick disease, type C, 257220
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- 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
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npc1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npc1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: NPC1 was added gene: NPC1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C, 257220 Review for gene: NPC1 was set to GREEN