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  2. Hereditary ataxia
  3. HTT_CAG

Hereditary ataxia

STR: HTT_CAG

Green List (high evidence)
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

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: 1.298
Created: 15 Mar 2022, 4:02 p.m.
Last Modified: 15 Mar 2022, 4:02 p.m.
Panel version: 1.298

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Added to the panel following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Created: 4 Dec 2018, 2:43 p.m.
Created: 4 Dec 2018, 2:43 p.m.

Panel version: 1.131

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
Phenotypes
  • Huntington disease, OMIM:143100
Tags
STR
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 Mar 2022, Gel status: 1

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)

10 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

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

7 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: HTT_CAG.

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary ataxia. Sources: Expert Review Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: HTT_CAG was marked as current diagnostic