Hereditary spastic paraplegia

STR: HTT_CAG

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green following the Webex discussion with HD experts (6/09/2018) about feeding back HTT results
Created: 4 Dec 2018, 2:41 p.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back HTT results
Sources: Expert Review
Created: 4 Dec 2018, 2:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

History Filter Activity

20 Dec 2018, Gel status: 3

Changed GRCh38, Status Update

Louise Daugherty (Genomics England Curator)

GRCh38 position for HTT_CAG was changed from 3074875-3074939 to 3074877-3074939. Rating Changed from Green List (high evidence) to Green List (high evidence)

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

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

Changed Pathogenic Number of Repeats

Arianna Tucci (Genomics England Curator)

Pathogenic Number of Repeats for HTT_CAG was changed from 37 to 40.

4 Dec 2018, Gel status: 1

Changed Pathogenic Number of Repeats

Arianna Tucci (Genomics England Curator)

Pathogenic Number of Repeats for HTT_CAG was changed from 38 to 37.

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 spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: HTT_CAG was set to GREEN