Brain channelopathy

Gene: HTT

Red List (low evidence)

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 18 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Marked as red as suggested by the expert reviewer Dr Matthews (UCL Institute of Neurology) - as not relevant to the phenotype
Created: 22 Feb 2017, 2:57 p.m.
Marked as red as it is currently ngs unreportable
Created: 23 Jan 2017, 3:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease 143100

Mode of pathogenicity
Other

History Filter Activity

22 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Jan 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

HTT was added to Brain channelopathypanel. Sources: Expert Review

23 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

HTT was created by arianna