Fetal hydrops
Gene: NPC1EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 20 panels
1 review
Rebecca Foulger (Genomics England curator)
PMID:23137060 (Whybra et al., 2012) report a male fetus presented with intrauterine ascites at 30 weeks of gestation and mutations in the NPC1 Gene. Confirmed DD gene for Niemann-Pick disease, type C1 (OMIM:257220). >3 cases of NPC1 mutations linked to NPC in OMIM.Created: 21 Dec 2016, 11:45 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Literature
- Phenotypes
-
- Niemann-Pick disease, type C1, 257220
- Niemann-Pick disease, type C
- NPC1
- OMIM
- 607623
- Clinvar variants
- Variants in NPC1
- Penetrance
- Complete
- 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
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Upload gene information
Rebecca Foulger (Genomics England curator)NPC1 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
Set publications
Rebecca Foulger (Genomics England curator)Publications for NPC1 were set to 23137060; 2375336; 2589877; 2334227; 23597521
Added New Source
Rebecca Foulger (Genomics England curator)NPC1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)NPC1 was created by rfoulger