Genes in panel

Adult onset movement disorder

Gene: HTT

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR HTT_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.
Created: 19 Jun 2019, 4:22 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Triplet repeat expansion
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Huntington disease

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Huntington disease for gene: HTT

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HTT.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to HTT.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HTT was added gene: HTT was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HTT were set to Huntington disease