Cholestasis

Gene: NPC2

Green List (high evidence)

NPC2 (NPC intracellular cholesterol transporter 2)
EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: NPC2; 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 given
Created: 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, 10:25 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 C2
Created: 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.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; Niemann Pick C

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: npc2 has been classified as Green List (High Evidence).

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Other was added to NPC2. Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625 for gene: NPC2 Publications for gene NPC2 were changed from to 17470133; 11567215; 11125141; 12955717

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to NPC2. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NPC2 was added gene: NPC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NPC2 was set to