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Early-onset Parkinson disease

Gene: HTT

No list
HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 26 Mar 2020, 3:12 a.m.
Last Modified: 26 Mar 2020, 3:12 a.m.
Panel version: 0.17

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Tags
STR
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htt has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htt has been classified as Green List (High Evidence).

26 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htt has been classified as Red List (Low Evidence).

26 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htt has been classified as Red List (Low Evidence).

26 Mar 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: HTT.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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