Adult onset movement disorderGene: JPH3
This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR JPH3_CTG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.
Created: 19 Jun 2019, 4:33 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Triplet repeat expansion.
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Huntington disease-like 2
Mode of pathogenicity
Other - please provide details in the comments
Added phenotypes Huntington disease-like 2 for gene: JPH3
Source NHS GMS was added to JPH3.
Source South West GLH was added to JPH3.
gene: JPH3 was added gene: JPH3 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JPH3 were set to Huntington disease-like 2 Mode of pathogenicity for gene: JPH3 was set to Other - please provide details in the comments