Early onset dystonia
Gene: HTRA2
HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a possible G2P. At least 4 homozygous variants reported in 4 unrelated ethnically diverse families. Segregation with the condition demonstrated for two of the variants (PMID 27208207) and functional studies provided for the remaining two variants (PMID 27696117).Created: 5 Sep 2017, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VIII 617248
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- 3-methylglutaconic aciduria, type VIII 617248
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
History Filter Activity
5 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)HTRA2 was added to Early onset dystoniapanel. Sources: Literature
5 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)HTRA2 was created by sleigh