Childhood onset dystonia, chorea or related movement disorder
Gene: HTRA2

HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

3-methylglutaconic aciduria, type VIII 617248

OMIM

606441

Clinvar variants

Variants in HTRA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to HTRA2. Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type VIII 617248 for gene: HTRA2 Publications for gene HTRA2 were changed from to 27208207; 27696117

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HTRA2 was added gene: HTRA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HTRA2 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: HTRA2