Lysosomal storage disorder
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1 257220; Niemann-Pick disease, type D 257220
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Niemann-Pick disease, type D OMIM:257220
- Niemann-Pick disease, type C1 OMIM:257220
- Niemann-Pick disease, type C1 MONDO:0009757
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- 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
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NPC1 was added gene: NPC1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220