Parkinson Disease and Complex Parkinsonism
Gene: HTTComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 3:15 p.m. | Last Modified: 10 Nov 2021, 3:15 p.m.
Panel Version: 1.88
Monoallelic mutations cause Huntington s disease (HD). The classical presentation HD includes midlife onset of dementia, personality disorders, and chorea, with dystonia and Parkinsonism usually appearing later over the course of the disease. HD is caused by an expansion of 36 or more CAG trinucleotide repeats in the HTT gene. Some cases could present as complex parkinsonism, but would need to discuss with referring clinician for any potential pathogenic variant detected. loss-of-function and missense variants are not relevant in this gene.Created: 14 Dec 2016, 5:27 p.m.
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:31 a.m.
"HD" was submitted on the expert list. HTT is the likely HGNC-approved symbol for this gene.Created: 24 Jul 2015, 12:22 p.m.
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 Huntingtons disease (HD) to Huntington disease, OMIM:143100
19th Dec 2016: panel revised according to expert review and further curation.
Phenotypes for HTT were set to Huntingtons disease (HD)
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for HTT was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
HTT was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
HTT was created by ellenmcdonagh