Cholestasis
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:39 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: NPC1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
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
- Other
- NHS GMS
- Phenotypes
-
- Niemann-Pick disease, type D, 257220
- Niemann-Pick disease type C1, 257220
- Neonatal and Adult Cholestasis
- 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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: npc1 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Other was added to NPC1. Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease type C1, 257220; Neonatal and Adult Cholestasis for gene: NPC1 Publications for gene NPC1 were changed from to 9634529; 10480349; 11545687; 10521290; 9211849; 24135395; 12554680; 11754101
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to NPC1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NPC1 was added gene: NPC1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NPC1 was set to