Genetic Epilepsy
Gene: HTRA2

HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported.
Created: 5 May 2022, 12:54 a.m. | Last Modified: 5 May 2022, 12:54 a.m.

Panel Version: 0.13771

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type VIII, MIM# 617248

Publications

Created: 5 May 2022, 12:54 a.m.
Last Modified: 5 May 2022, 12:54 a.m.
Panel version: Imported from Mendeliome panel version 0.13771

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

3-methylglutaconic aciduria, type VIII, MIM# 617248

OMIM

606441

Clinvar variants

Variants in HTRA2

Penetrance

None

Publications

Panels with this gene