Adult onset dystonia, chorea or related movement disorder
Gene: HTTEnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 3:18 p.m. | Last Modified: 10 Nov 2021, 3:18 p.m.
Panel Version: 1.150
Louise Daugherty (Genomics England Curator)
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 HTT_CAG (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, 4:22 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.
Emily Jones (North Bristol NHS Trust)
Triplet repeat expansionCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Huntington disease
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- 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 Huntington disease to Huntington disease, OMIM:143100
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Huntington disease for gene: HTT
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTT.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HTT.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HTT was added gene: HTT was added to Adult onset movement disorder. 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