This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Congenital myopathy
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)HTRA2 was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)HTRA2 was created by Sarah Leigh