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Early-onset Dementia

Gene: HTRA2

Red List (low evidence)
HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

There is reported accumulation of HtrA2/Omi in patient's with dementia with Lewy bodies. No clear genetic evidence that dementia or cognitive decline is a feature of the conditions caused by this gene.
Created: 6 Feb 2020, 4:29 a.m. | Last Modified: 6 Feb 2020, 4:29 a.m.
Panel Version: 0.4

Phenotypes
Parkinson disease 13 MIM#610297; 3-methylglutaconic aciduria, type VIII MIM#617248

Publications

Created: 6 Feb 2020, 4:29 a.m.
Last Modified: 6 Feb 2020, 4:29 a.m.
Panel version: 0.4

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
OMIM
606441
Clinvar variants
Variants in HTRA2
Penetrance
None
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htra2 has been classified as Red List (Low Evidence).

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: htra2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HTRA2 was added gene: HTRA2 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: HTRA2 was set to Unknown