Extreme early-onset hypertensionGene: CYP17A1
Comment when marking as ready: Present in 4/4 sources, numerous variants reported for this phenotype
Created: 25 Jul 2016, 2:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congential adrenal hyperplasia, hypertension
"CYP17" was submitted by the expert, CYP17A1 is likely to approved HGNC term.
Created: 15 Jul 2015, 11:08 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for CYP17A1 were set to 17,20-lyase deficiency, isolated 202110; 17-alpha-hydroxylase/17,20-lyase deficiency 202110
Mode of inheritance for CYP17A1 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP17A1 was added to Extreme early-onset hypertensionpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CYP17* was added to Extreme early-onset hypertensionpanel. Sources: Expert