Congenital myopathy
Gene: HTRA2Comment 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
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
Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria, type VIII, OMIM:617248
Source NHS GMS was added to HTRA2. Publications for gene HTRA2 were changed from 27208207; 27696117 to 27208207; 27696117
Gene: htra2 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
HTRA2 was added to Congenital myopathypanel. Sources: Literature
HTRA2 was created by sleigh