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Prepair 1000+

Gene: HTRA2

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

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.

Onset soon after birth, death in infancy (OMIM).
Created: 15 Oct 2024, 11:08 p.m. | Last Modified: 15 Oct 2024, 11:08 p.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Oct 2024, 11:08 p.m.
Last Modified: 15 Oct 2024, 11:08 p.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
OMIM
606441
Clinvar variants
Variants in HTRA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: htra2 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HTRA2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HTRA2 was added gene: HTRA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3), Autosomal recessive