Hydrops fetalis
Gene: NPC2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease.
Sources: Expert list
Created: 13 Aug 2020, 8:02 p.m. | Last Modified: 14 Aug 2020, 12:01 a.m.

Panel Version: 0.155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

29928259

Created: 13 Aug 2020, 8:02 p.m.
Last Modified: 14 Aug 2020, 12:01 a.m.
Panel version: 0.155

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Niemann-pick disease, type C2, MIM# 607625

OMIM

601015

Clinvar variants

Variants in NPC2

Penetrance

None

Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npc2 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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 Hydrops fetalis. Sources: Expert list 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, MIM# 607625 Review for gene: NPC2 was set to RED

Hydrops fetalis Gene: NPC2