Neonatal cholestasis
Gene: NPC2Comment when marking as ready: Sufficient evidence to rate as green.Created: 25 Jul 2018, 10:25 a.m.
Comment on list classification: More than 3 unrelated cases with plausible disease-causing mutations.Created: 25 Jul 2018, 10:24 a.m.
Comment on phenotypes: Added MIM number to Niemann-Pick disease type C2Created: 25 Jul 2018, 10:22 a.m.
Comment on publications: Added publications related to cases.Created: 25 Jul 2018, 10:22 a.m.
In OMIM and Gene2phenotype NCP2 (also known as HE1) is associated with Niemann-pick disease, type C2. OMIM report that Naureckiene et al. (2000) (PMID: 11125141) identified homozygous mutations in the HE1 gene in 2 patients with Niemann-Pick disease type C. Park et al. (2003) (PMID: 12955717) identified 7 different mutations in the NPC2 gene as the basis of Niemann-Pick disease type C and Verot et al. (2007) (PMID: 17470133) identified 5 different mutations in the NPC2 gene in 6 unrelated patients with NPC2. Millat et al. (2001) (PMID: 11567215) reported the first comprehensive study of 8 unrelated families with NPC2 and among these patients 5 different mutations were identified, all with a severe impact on the protein.Created: 25 Jul 2018, 10:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; Niemann Pick C
Variants in this GENE are reported as part of current diagnostic practice
All types of variants reported;
Only 2 carriers identified in 205 patients tested (MLPA has also been performed)Created: 4 Jun 2018, 1:14 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: NPC2 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625
Gene: npc2 has been classified as Green List (High Evidence).
Gene: npc2 has been classified as Green List (High Evidence).
Phenotypes for gene: NPC2 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C2 607625
Publications for gene: NPC2 were set to 11125141; 12955717; 17470133; 11567215
Victorian Clinical Genetics Services was added to NPC2. Panel: Cholestasis
UKGTN was added to NPC2. Panel: Cholestasis Model of inheritance for gene NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NPC2 were set to Neonatal and Adult Cholestasis, Niemann-Pick disease type C2
NPC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NPC2 was created by Ellen McDonagh