Brain channelopathy
Gene: HTTEnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 3:16 p.m. | Last Modified: 10 Nov 2021, 3:16 p.m.
Panel Version: 1.69
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as suggested by the expert reviewer Dr Matthews (UCL Institute of Neurology) - as not relevant to the phenotypeCreated: 22 Feb 2017, 2:57 p.m.
Marked as red as it is currently ngs unreportableCreated: 23 Jan 2017, 3:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- 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
- Childhood 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, NOT imprinted to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HTT were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)HTT was added to Brain channelopathypanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)HTT was created by arianna