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Hereditary ataxia - 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 = 36
Pathogenic Number of Repeats: = or > 40

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 18 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: 2.147
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, 9:37 a.m. | Last Modified: 6 Oct 2020, 9:37 a.m.
Panel Version: 2.12

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Green
Created: 5 Aug 2019, 3:12 p.m. | Last Modified: 5 Aug 2019, 3:12 p.m.
Panel Version: 1.194
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 1:12 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: < or =
36
Pathogenic Number of Repeats: = or >
40
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert list
Phenotypes
  • Huntington disease, OMIM:143100
Tags
STR curated_removed
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 0

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for HTT_CAG was changed from 40 to 36.

10 Nov 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed 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.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: HTT_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: HTT_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STR: HTT_CAG.

9 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 Hereditary ataxia - 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