Complex Parkinsonism (includes pallido-pyramidal syndromes)

Gene: HTT

Red List (low evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:32 a.m.

Ellen McDonagh (Genomics England Curator)

"HD" was submitted on the expert list. HTT is the likely HGNC-approved symbol for this gene.
Created: 24 Jul 2015, 12:22 p.m.

History Filter Activity

5 Dec 2016, Gel status: 0

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for HTT was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

24 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HTT was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert