Congenital myopathy

Gene: HTRA2

Red List (low evidence)

HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 20 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 CM
Created: 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)

Green List (high evidence)

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

History Filter Activity

4 Dec 2019, Gel status: 1

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

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: htra2 has been classified as Red List (Low Evidence).

5 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HTRA2 was added to Congenital myopathypanel. Sources: Literature

5 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HTRA2 was created by sleigh