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Neurodegenerative disorders - adult onset

STR: HTT_CAG

No list

Chromosome: 4
GRCh37 Position: 3076604-3076666
GRCh38 Position: 3074877-3074939
Repeated Sequence: CAG
Normal Number of Repeats: < or = 40
Pathogenic Number of Repeats: = or > 40

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 18 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Triplet repeat length in HTT is measured within the NHS to diagnose Huntington's disease which is, typically, an adult-onset disorder leading to neurodegeneration. I think this is therefore a relevant genomic target for this panel and omission could pose clinical risk in terms of missed diagnoses.
Created: 25 Jan 2021, 4:26 p.m. | Last Modified: 25 Jan 2021, 4:26 p.m.
Panel Version: 2.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease # 143100

Variants in this STR are reported as part of current diagnostic practice

Arina Puzriakova (Genomics England Curator)

Tagged 'for-review' to highlight the recent review by Helen Brittain (Genomics England Clinical Team) indicating that exclusion of this STR may increase risk of missed diagnoses. HTT_CAG was removed from this panel in October 2020 at request of the GMS Specialist Test Group.
Created: 26 Jan 2021, 11:11 a.m. | Last Modified: 26 Jan 2021, 11:11 a.m.
Panel Version: 2.38
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, 10:34 a.m. | Last Modified: 6 Oct 2020, 10:34 a.m.
Panel Version: 2.17

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:58 p.m. | Last Modified: 23 Jul 2019, 4:58 p.m.
Panel Version: 1.75
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:35 p.m.
Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 9:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease 143100

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: < or =
40
Pathogenic Number of Repeats: = or >
40
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
Phenotypes
  • Huntington disease 143100
Tags
STR for-review curated_removed
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None

History Filter Activity

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to STR: HTT_CAG.

26 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: HTT_CAG.

6 Oct 2020, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: htt_cag has been removed from the panel.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: HTT_CAG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: HTT_CAG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: HTT_CAG.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: htt_cag has been classified as Green List (High Evidence).

21 Dec 2018, Gel status: 1

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 Neurodegenerative disorders - adult 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