Congenital myopathy
Gene: HTRA2EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off - does not cause a form of CMCreated: 3 Dec 2019, 3:02 p.m. | Last Modified: 3 Dec 2019, 3:02 p.m.
Panel Version: 1.200
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a possible G2P. At least 4 homozygous variants reported in 4 unrelated ethnically diverse families. Segregation with the condition demonstrated for two of the variants (PMID 27208207) and functional studies provided for the remaining two variants (PMID 27696117).Created: 5 Sep 2017, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VIII 617248
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- 3-methylglutaconic aciduria, type VIII, OMIM:617248
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria, type VIII, OMIM:617248
Added New Source, Set publications
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTRA2. Publications for gene HTRA2 were changed from 27208207; 27696117 to 27208207; 27696117
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: htra2 has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)HTRA2 was added to Congenital myopathypanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)HTRA2 was created by sleigh