Dystonia - complex
Gene: HTRA2EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria type 8 MONDO:0044723
Sangavi Sivagnanasundram (Melbourne Health)
Multiple affected individuals with dystonia associated with the metabolic disorder. ClinGen has classified this gene-disease association as Definitive on 11/07/2022 (https://search.clinicalgenome.org/CCID:005099) stating dystonia can be presenting feature however the reported families with dystonia are all consanguineous.
PMID: 27208207 - sibs born to consanguineous parents who presented with hypertonia and tremor and MGC8 deficiency. Two of the sibs presented with hearing loss and all sibs present with DD, intractable seizures along with other extrapyramidal features.
PMID: 27696117 - two unrelated consanguineous families with MGC8 deficiency. Affected individuals present with dystonia, seizures, poor feeding and hypotonia.
Supportive in vitro functional assay was conducted that showed the LoF mechanism of disease.Created: 9 Dec 2024, 11:07 p.m. | Last Modified: 9 Dec 2024, 11:07 p.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria type 8 MONDO:0044723
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- 3-methylglutaconic aciduria type 8 MONDO:0044723
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: htra2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria type 8 MONDO:0044723
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HTRA2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HTRA2 was added gene: HTRA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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 617248