Neonatal cholestasis
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment when marking as ready: Sufficient evidence to rate as green.Created: 25 Jul 2018, 10:06 a.m.
Comment on publications: Added publications describing cases and phenotypesCreated: 25 Jul 2018, 10:05 a.m.
Comment on list classification: More than 3 unrelated cases with plausible disease-causing mutations in this gene.Created: 25 Jul 2018, 10:02 a.m.
In OMIM this gene is associated with Niemann-Pick disease, type C1 and type D. One of the features of this disease is choleostasis (Mengel et al 2013 PMID: 24135395 ). Numerous cases (~50) reported with patients with Niemann-Pick disease type C1 and variants in this gene. In gene2phenotype there is a confirmed association of NPC1 with NIEMANN-PICK DISEASE, TYPE C1.Created: 25 Jul 2018, 10:01 a.m.
Comment on phenotypes: Added Niemann-Pick disease, type D and MIM numbers.Created: 25 Jul 2018, 9:38 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; Niemann Pick C syndrome
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
All types of variants reported;
Rare gene in our cohort; 3 diagnoses in 205 patients tested (and we also test with MLPA)Created: 4 Jun 2018, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Niemann-Pick disease type C1, 257220
- Niemann-Pick disease, type D, 257220
- 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
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NPC1 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C1, 257220; Niemann-Pick disease, type D, 257220
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: npc1 has been classified as Green List (High Evidence).
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NPC1 were set to 9211849; 10480349; 10521290; 9634529; 9634529; 11545687; 11754101; 11754101; 12554680; 24135395
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: npc1 has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NPC1 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C1 257220; Niemann-Pick disease, type D 257220
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to NPC1. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to NPC1. Panel: Cholestasis Model of inheritance for gene NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NPC1 were set to Neonatal and Adult Cholestasis, Niemann-Pick disease type C1
Added New Source
Ellen McDonagh (Genomics England Curator)NPC1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)NPC1 was created by Ellen McDonagh