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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.
Created: 17 Jan 2017, 12:55 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NPC2. Source London North GLH was added to NPC2.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NPC2 was added gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 27604308