This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Triplet repeat expansion.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Huntington disease, 143100
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
- Panels with this gene
-
- Adult onset hereditary spastic paraplegia
- Structural basal ganglia disorders
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene HTT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Huntington disease, 143100 for gene: HTT
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to HTT.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HTT was added gene: HTT was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: HTT was set to