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  3. HTT_CAG

Brain channelopathy

STR: HTT_CAG

No list
Chromosome: 4
GRCh37 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: 1.77
Created: 15 Mar 2022, 4:02 p.m.
Last Modified: 15 Mar 2022, 4:02 p.m.
Panel version: 1.77

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 7:28 p.m.
Created: 5 Dec 2018, 7:28 p.m.

Panel version: 1.42

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

The normal number of repeats was changed from 26 to 36.
Created: 6 Jun 2018, 1:52 p.m.
Penetrance: >=36-39 (reduced prenetrance); >40 fully penetrant
Created: 31 May 2018, 12:29 p.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

Created: 31 May 2018, 12:29 p.m.

Panel version: 1.29

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
STR curated_removed
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None
Publications

History Filter Activity

10 Mar 2022, Gel status: 0

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.

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.

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: htt_cag has been removed from the panel.

5 Dec 2018, Gel status: 1

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

Louise Daugherty (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.

6 Jun 2018, Gel status: 1

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for HTT_CAG was changed from 26 to 36. Panel: Brain channelopathy

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: HTT_CAG. Panel: Brain channelopathy

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: HTT_CAG was added to Brain channelopathy panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: HTT_CAG was created by Ellen McDonagh