This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
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
Ellen McDonagh (Genomics England Curator)
This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 12:18 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Parkinson disease 13, 610297
- Parkinson Disease, Dominant
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- Complete
- Panels with this gene
-
- Congenital myopathy
- DDG2P
- COVID-19 research
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Intellectual disability
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
24 Jul 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HTRA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)HTRA2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HTRA2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen