Hereditary ataxia - adult onsetGene: NPC2
As above but 23 DM 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 cases
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Niemann-Pick disease type C2, 607625
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to NPC2.
Added phenotypes Niemann-Pick disease type C2, 607625 for gene: NPC2
Source NHS GMS was added to NPC2.
Source Wessex and West Midlands GLH was added to NPC2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: NPC2 was added gene: NPC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)