Adult onset dystonia, chorea or related movement disorder
Gene: HTRA2EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: 3-methylglutaconic aciduria, type VIII (symptoms include extrapyramidal signs and dystonic posturing): Death in infancyCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Suggested by Huw and Raquel - onset/death in infancyCreated: 23 Apr 2019, 1:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Parkinson Disease, Dominant
- Parkinson disease 13, 610297
- 3-methylglutaconic aciduria, type VIII 617248
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bilateral congenital or childhood onset cataracts
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Congenital myopathy
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to HTRA2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTRA2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to HTRA2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HTRA2 was added gene: HTRA2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 18364387; 27208207; 18401856; 27696117; 23462481; 15961413 Phenotypes for gene: HTRA2 were set to Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248