Parkinson Disease and Complex Parkinsonism
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
3 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: 1.105
Arianna Tucci (Genomics England Curator)
Threshold changes to 40 repeats following the Webex discussion with HD experts (6/09/2018) about feeding back HTT resultsCreated: 4 Dec 2018, 2:35 p.m.
Comment on list classification: changed to green as diagnostic for HDCreated: 5 Jun 2018, 10:56 a.m.
Ellen McDonagh (Genomics England Curator)
The normal number of repeats was changed from 26 to 36.Created: 6 Jun 2018, 1:54 p.m.
Penetrance: >=36-39 (reduced prenetrance); >40 fully penetrantCreated: 1 Jun 2018, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
Publications
Variants in this STR are reported as part of current diagnostic practice
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 Green
- NHS GMS
- Expert list
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
- Publications
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag anticipation was removed from STR: HTT_CAG.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: htt_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source NHS GMS was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: htt_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats
Arianna Tucci (Genomics England Curator)Normal Number of Repeats for HTT_CAG was changed from 36 to 40. Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40.
Changed Normal Number of Repeats
Ellen McDonagh (Genomics England Curator)Normal Number of Repeats for HTT_CAG was changed from 26 to 36. Panel: Parkinson Disease and Complex Parkinsonism
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: htt_cag has been classified as Green List (High Evidence).
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: HTT_CAG. Panel: Parkinson Disease and Complex Parkinsonism
Added New Source
Ellen McDonagh (Genomics England Curator)STR: HTT_CAG was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: HTT_CAG was created by Ellen McDonagh