This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: HTT
HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels
2 reviews
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:32 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
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- 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
-
- Structural basal ganglia disorders
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Paroxysmal central nervous system disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Ataxia and cerebellar anomalies - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
5 Dec 2016, Gel status: 0
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
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HTT was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert