Leukodystrophy - 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)

White matter lesions identified in MRI of 5/11 of Niemann-Pick patients (including adult-onset) and in an NPC mouse model.
Sources: Expert list
Created: 19 Jan 2020, 1:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type C1/D 257220

Publications

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jan 2020, 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 Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 26910362; 29406968 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D 257220 Review for gene: NPC1 was set to GREEN