Neonatal 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

3 reviews

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

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NPC2 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

25 Jul 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NPC2 were set to Neonatal and Adult Cholestasis; Niemann-Pick disease type C2 607625

25 Jul 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NPC2 were set to 11125141; 12955717; 17470133; 11567215

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NPC2. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NPC2 was created by Ellen McDonagh