Neonatal cholestasis
Gene: NPC1Comment 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.
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
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
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: NPC1 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C1, 257220; Niemann-Pick disease, type D, 257220
Gene: npc1 has been classified as Green List (High Evidence).
Publications for gene: NPC1 were set to 9211849; 10480349; 10521290; 9634529; 9634529; 11545687; 11754101; 11754101; 12554680; 24135395
Gene: npc1 has been classified as Green List (High Evidence).
Phenotypes for gene: NPC1 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C1 257220; Niemann-Pick disease, type D 257220
Victorian Clinical Genetics Services was added to NPC1. Panel: Cholestasis
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
NPC1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NPC1 was created by Ellen McDonagh