Adult onset leukodystrophy
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are two unrelated cases associating NPC1 with white matter abnormalities in adulthood. However, there are several other cases with childhood-onset and functional evidence from animal models. This gene should be rated AMBER and 'watchlist' tag should be added.Created: 30 May 2023, 5:56 p.m. | Last Modified: 30 May 2023, 5:56 p.m.
Panel Version: 3.8
As reviewed by Zornitza Stark, five out of 11 patients reported with Niemann-Pick Disease Type C in PMID:26910362 had white matter lesions. Of these five, only one had adult-onset.
PMID:27900365 reported an adult-onset Niemann-Pick disease type C patient that had mild white matter loss.
Functional studies from NPC1 knockout mouse model also support the association of NPC1 with white matter abnormalities (PMIDs: 29406968 & 31254056).
This gene has been associated with Niemann-Pick disease in both OMIM and Gene2Phenotype.Created: 30 May 2023, 5:52 p.m. | Last Modified: 30 May 2023, 5:52 p.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1, OMIM:257220; Niemann-Pick disease, type D, OMIM:257220
Publications
Zornitza Stark (Australian Genomics)
White matter lesions identified in MRI of 5/11 of Niemann-Pick patients (including adult-onset) and in an NPC mouse model.
Sources: Expert listCreated: 21 Jun 2020, 6:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1/D 257220
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Niemann-Pick disease, type C1/D 257220
- Tags
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Niemann Pick disease type C
- Hyperammonaemia
- COVID-19 research
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag watchlist tag was added to gene: NPC1.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: npc1 has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: NPC1 were set to 26910362; 29406968
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: NPC1 was added gene: NPC1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 26910362; 29406968 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D 257220 Review for gene: NPC1 was set to GREEN gene: NPC1 was marked as current diagnostic