Childhood onset hereditary spastic paraplegia
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: 2.130
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: 7 Oct 2020, 9:22 a.m. | Last Modified: 7 Oct 2020, 9:22 a.m.
Panel Version: 2.17
Louise Daugherty (Genomics England Curator)
Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. Further comment: risk element- needs further discussion from data analysis from 100K Genomes Project.Created: 22 May 2019, 11:39 a.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 4:22 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert listCreated: 21 Dec 2018, 2:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
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
-
- NHS GMS
- Expert Review Removed
- Expert list
- Phenotypes
-
- Huntington disease, OMIM:143100
- Tags
- OMIM
- 613004
- Clinvar variants
- Variants in HTT
- Penetrance
- None
History Filter Activity
Changed Normal Number of Repeats, Added New Source
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.
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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: htt_cag has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Source PanelApp panels : Hered
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: htt_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: htt_cag has been classified as Red List (Low Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary spastic paraplegia - childhood onset. 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 Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN