Adult onset neurodegenerative disorder
Gene: JPH3Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 4:39 p.m. | Last Modified: 9 Nov 2021, 4:39 p.m.
Panel Version: 2.228
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Point mutations not associated with Huntington disease like 2Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2 606438
Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Source NHS GMS was added to JPH3.
Source Yorkshire and North East GLH was added to JPH3.
Rebecca Foulger: Gene awaiting curator evaluati
Tag nucleotide-repeat-expansion tag was added to gene: JPH3. Tag currently-ngs-unreportable tag was added to gene: JPH3.
Added phenotypes Huntington disease-like 2 606438 for gene: JPH3
gene: JPH3 was added gene: JPH3 was added to Neurodegenerative disorders - adult onset. 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 606438