Adult onset neurodegenerative disorder
Gene: HTTComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 3:16 p.m. | Last Modified: 10 Nov 2021, 3:16 p.m.
Panel Version: 2.235
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 diseaseCreated: 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, imprinted status unknown
Phenotypes
Huntington disease 143100; Huntingtons disease (HD)
Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: HTT were changed from Huntington disease 143100; Huntingtons disease (HD) to Huntington disease, OMIM:143100
Source NHS GMS was added to HTT.
Source Yorkshire and North East GLH was added to HTT.
Rebecca Foulger: Gene awaiting curator evaluati
Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT.
Added phenotypes Huntingtons disease (HD) for gene: HTT
gene: HTT was added gene: HTT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease 143100