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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Highly variable phenotype. Disease onset occurs through the lifespan, from antenatal life to maturity.

PMID: 29625568: 95% of all disease are due to mutations in the NPC1 gene and the remainder in the NPC2 gene.
Created: 22 Jul 2022, 2:06 a.m. | Last Modified: 22 Jul 2022, 2:06 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-pick disease, type C2 (MIM#607625)

Publications

Created: 22 Jul 2022, 2:06 a.m.
Last Modified: 22 Jul 2022, 2:06 a.m.
Panel version: 0.61

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Niemann-pick disease, type C2, MIM#607625 for gene: NPC2

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2, 607625 (3) to Niemann-pick disease, type C2, MIM#607625

26 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPC2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPC2 was added gene: NPC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)