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Early-onset Dementia

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Progressive dementia is a neurological feature of NPC disease.
Created: 15 Aug 2023, 4:23 a.m. | Last Modified: 15 Aug 2023, 4:23 a.m.
Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-pick disease, type C2 MIM#607625

Publications

Created: 15 Aug 2023, 4:23 a.m.
Last Modified: 15 Aug 2023, 4:23 a.m.
Panel version: 0.179

History Filter Activity

17 Aug 2023, 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).

17 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPC2 were set to

17 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPC2 was added gene: NPC2 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: NPC2 was set to Unknown