Early-onset Parkinson disease
Gene: HTT
Comment on list classification: Parkinsonism is a feature of Huntingtons. This repeat expansion is not detectable by current NGS technology.Created: 26 Mar 2020, 3:15 a.m. | Last Modified: 26 Mar 2020, 3:15 a.m.
Panel Version: 0.18
Parkinsonism is not a reported feature of recessive LOMARS, which is caused by biallelic SNVs in the gene. Parkinsonism is a feature of dominant Huntington disease, which is caused by repeat expansion.Created: 26 Mar 2020, 3:12 a.m. | Last Modified: 26 Mar 2020, 3:12 a.m.
Panel Version: 0.17
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lopes-Maciel-Rodan syndrome MIM#617435; Huntington disease MIM#143100
Publications
Gene: htt has been removed from the panel.
Gene: htt has been classified as Green List (High Evidence).
Gene: htt has been classified as Red List (Low Evidence).
Gene: htt has been classified as Red List (Low Evidence).
Tag STR tag was added to gene: HTT.
gene: HTT was added gene: HTT was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: HTT was set to Unknown