Structural basal ganglia disorders

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

2 reviews

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, 7:27 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

The normal number of repeats was changed from 26 to 36.
Created: 6 Jun 2018, 1:53 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

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

History Filter Activity

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: Structural basal ganglia disorders

1 Jun 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: HTT_CAG. Panel: Structural basal ganglia disorders

1 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: HTT_CAG was added to Structural basal ganglia disorders panel. Sources: Expert list

1 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: HTT_CAG was created by Ellen McDonagh