Research panel - Severe Paediatric Disorders
Gene: HTT

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

In line with the review from Tracy Lester (Genetics laboratory, Oxford UK), HTT has been demoted from green to amber on this panel. To date there are three variants associated with Lopes-Maciel-Rodan syndrome (OMIM:617435) in two unrelated families (PMID: 27329733; 33432339; 26740508).
Created: 12 Nov 2024, 10:20 a.m. | Last Modified: 12 Nov 2024, 10:20 a.m.

Panel Version: 1.206

Comment on phenotypes: Huntington disease, OMIM:143100 is associated with monoallelic HTT_CAG expansion.
Created: 12 Nov 2024, 10:06 a.m. | Last Modified: 12 Nov 2024, 10:06 a.m.

Panel Version: 1.206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Nov 2024, 10:06 a.m.
Last Modified: 12 Nov 2024, 10:06 a.m.
Panel version: 1.207

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

The rating of this gene should align with the other panels. Gene is currently amber for ID in relation to AR disorders so it should also be amber for this panel. The AD phenotype is a late-onset condition and therefore gene should only be linked to the paediatric panel in relation to AR inheritance.
Created: 1 Aug 2024, 2:14 p.m. | Last Modified: 1 Aug 2024, 2:14 p.m.

Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Aug 2024, 2:14 p.m.
Last Modified: 1 Aug 2024, 2:14 p.m.
Panel version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HTT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Huntington disease, 143100 (3) | Lopes-Maciel-Rodan syndrome, 617435 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Next Generation Children Project
Expert list

Phenotypes

Lopes-Maciel-Rodan syndrome, OMIM:617435
Lopes-Maciel-Rodan syndrome, MONDO:0054573

OMIM

613004

Clinvar variants

Variants in HTT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Nov 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HTT were set to 30847515

12 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HTT were changed from Lopes-Maciel-Rodan syndrome, 617435; Huntington disease, 143100 to Lopes-Maciel-Rodan syndrome, OMIM:617435; Lopes-Maciel-Rodan syndrome, MONDO:0054573

12 Nov 2024, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: HTT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

12 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: htt has been classified as Amber List (Moderate Evidence).

21 Feb 2020, Gel status: 3