This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- 3-methylglutaconic aciduria, type VIII, MIM#617248
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Likely inborn error of metabolism
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Adult onset neurodegenerative disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Parkinson Disease and Complex Parkinsonism
- Mitochondrial disorders
- Early onset dystonia
- Early onset or syndromic epilepsy
- Congenital myopathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Bilateral congenital or childhood onset cataracts
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HTRA2 was added gene: HTRA2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM#617248