Parkinson Disease and Complex Parkinsonism
Gene: HTTEnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
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.
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:31 a.m.
Ellen McDonagh (Genomics England Curator)
"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.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- Complete
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Brain channelopathy
- Paroxysmal central nervous system disorders
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HTT were changed from Huntingtons disease (HD) to Huntington disease, OMIM:143100
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HTT were set to Huntingtons disease (HD)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Alice Gardham (Genomics England)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
Added New Source
Ellen McDonagh (Genomics England Curator)HTT was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
Created
Ellen McDonagh (Genomics England Curator)HTT was created by ellenmcdonagh