Extreme early-onset hypertensionGene: AGTR1
Comment when marking as ready: The single variant (rs rs5186) reported to be associated with essential Hypertension (OMIM 145500) is in the 3' UTR, has a MAF >0.1, correlation with conflicting reports about whether or not relevant for this phenotype. LOF variants reported for Renal tubular dysgenesis (OMIM 267430), which has the clinical feature of extreme hypotension.
Created: 25 Jul 2016, 2:28 p.m.
Publications for AGTR1 were set to 8021009; 16116425; 23942655; 25603901
This gene has been classified as Red List (Low Evidence).
Phenotypes for AGTR1 were set to Hypertension, essential, 145500; Renal tubular dysgenesis, 267430
Mode of inheritance for AGTR1 was changed to BIALLELIC, autosomal or pseudoautosomal
AGTR1 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen