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
3-methylglutaconic aciduria, type VIII 617248
This gene has been classified as Green List (High Evidence).
HTRA2 was added to Cataractspanel. Sources: Literature
HTRA2 was created by sleigh