Dystonia - childhood onset

Gene: HTT

Red List (low evidence)

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

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: HTT. Tag currently-ngs-unreportable tag was added to gene: HTT.

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: HTT was added gene: HTT was added to Dystonia - childhood onset. 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 143100