Adult onset dystonia, chorea or related movement disorder
STR: HTT_CAGGRCh37 Position: 3076604-3076666
GRCh38 Position: 3074877-3074939
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 40
HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 0 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 4:02 p.m. | Last Modified: 15 Mar 2022, 4:02 p.m.
Panel Version: 1.166
Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.Created: 6 Oct 2020, 10:32 a.m. | Last Modified: 6 Oct 2020, 10:32 a.m.
Panel Version: 1.12
Louise Daugherty (Genomics England Curator)
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 5 Aug 2019, 3:26 p.m. | Last Modified: 5 Aug 2019, 3:26 p.m.
Panel Version: 0.95
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STRCreated: 23 Apr 2019, 1:32 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert listCreated: 11 Jan 2019, 3:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
Publications
Details
- Name
- HTT_CAG
- Chromosome
- 4
- GRCh37 Coordinates
- 3076604-3076666
- GRCh38 Coordinates
- 3074877-3074939
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 36
- Pathogenic Number of Repeats: = or >
- 40
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- NHS GMS
- London North GLH
- Expert list
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
- Publications
History Filter Activity
Changed Normal Number of Repeats
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to STR: HTT_CAG.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: htt_cag has been removed from the panel.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to STR: HTT_CAG.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: htt_cag has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: HTT_CAG was added STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HTT_CAG were set to 24256063 Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN