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  3. HTT
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Childhood onset dystonia, chorea or related movement disorder

Gene: HTT

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Biallelic SNVs have been reported for Lopes-Maciel-Rodan syndrome
Created: 10 Nov 2021, 3:22 p.m. | Last Modified: 10 Nov 2021, 3:22 p.m.
Panel Version: 1.188
Lopes-Maciel-Rodan syndrome is relevant and not Huntington Disease (as caused by nucleotide repeat expansion rather than SNV). Two unrelated families currently reported for Lopes-Maciel-Rodan syndrome, therefore rating status made Amber at this time and added the 'watchlist' tag in case further cases are reported. If this gene were to become Green, it is SNVs that should be reported for Lopes-Maciel-Rodan syndrome, and not expansion repeats which cause Huntington disease. Not in Gene2Phenotype gene lists.
Created: 10 Nov 2021, 3:21 p.m. | Last Modified: 10 Nov 2021, 3:21 p.m.
Panel Version: 1.186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lopes-Maciel-Rodan syndrome, OMIM:617435

Publications

Created: 10 Nov 2021, 3:21 p.m.
Last Modified: 10 Nov 2021, 3:21 p.m.
Panel version: 1.186

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Triplet repeat expansion.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

10 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HTT were set to

10 Nov 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

10 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 Nov 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: HTT.

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 Dec 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 Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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, 143100