Hereditary ataxia with onset in adulthood
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 mechanism. Biallelic variants not relevant to this panel.Created: 10 Nov 2021, 3:18 p.m. | Last Modified: 10 Nov 2021, 3:18 p.m.
Panel Version: 2.117
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
CAG repeat. Likely to be on movement panel.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 19 Sep 2019, 1:22 p.m. | Last Modified: 19 Sep 2019, 1:22 p.m.
Panel Version: 1.210
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Fine for standard HTT testing (CAG expansion). Regarding SNVs in the AR form these should be classified as amber, only two families reported to date, no real functional evidence although knockout mice known to have a neurodevelopmental disorderCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Huntington disease, 143100, 617432
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Brain channelopathy v1.46
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
- Mode of Pathogenicity
- Other - 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HTT were changed from Huntington disease 143100; Lopes-Maciel-Rodan syndrome, 617432 to Huntington disease, OMIM:143100
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: htt has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: HTT were changed from Huntington disease 143100; Huntington disease, 143100, 617432 to Huntington disease 143100; Lopes-Maciel-Rodan syndrome, 617432
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: htt has been classified as Amber List (Moderate Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to HTT.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Huntington disease, 143100, 617432 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 Wessex and West Midlands GLH was added to HTT.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: HTT was added gene: HTT was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HTT were set to Huntington disease 143100 Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments