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Ataxia - adult onset

Gene: NPC1

Green List (high evidence)
NPC1 (NPC intracellular cholesterol transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000141458
EnsemblGeneIds (GRCh37): ENSG00000141458
OMIM: 607623, Gene2Phenotype
NPC1 is in 21 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia can be a prominent and presenting feature of Niemann-Pick disease. Both paediatric and adult-onset ataxia has been reported with high prevalence.
Sources: Literature
Created: 13 Oct 2022, 2:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type C1 MONDO:0009757; ataxia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Oct 2022, 2:12 a.m.

Panel version: 0.174

History Filter Activity

13 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: npc1 has been classified as Green List (High Evidence).

13 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: npc1 has been classified as Green List (High Evidence).

13 Oct 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NPC1 was added gene: NPC1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 10480349; 17003072; 25497598; 33228797 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 MONDO:0009757; ataxia Review for gene: NPC1 was set to GREEN gene: NPC1 was marked as current diagnostic