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Early-onset Parkinson disease

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 3:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann Pick C2; Parkinsonism; OMIM 607625

Publications

Created: 17 Jul 2022, 3:13 p.m.

Panel version: 0.134

History Filter Activity

19 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).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPC2 were changed from Niemann Pick C2; Parkinsonism; OMIM 607625 to Niemann Pick C2, OMIM 607625; Parkinsonism

19 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).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: NPC2 was added gene: NPC2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to PMID: 35695805 Phenotypes for gene: NPC2 were set to Niemann Pick C2; Parkinsonism; OMIM 607625 Review for gene: NPC2 was set to GREEN