Hereditary ataxia with onset in adulthood
Gene: NPC1
In Oxford and Sheffield panels. Ataxia is a prominent feature of Niemann-Pick disease type C. 455 DM mutations in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the lit - evidence for later onset casesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease type C1, 257220
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to NPC1.
Added phenotypes Niemann-Pick disease type C1, 257220 for gene: NPC1
Source NHS GMS was added to NPC1.
Source Wessex and West Midlands GLH was added to NPC1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: NPC1 was added gene: NPC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)