Extreme early-onset hypertension
Gene: CYP11B1Comment on mode of inheritance: Familial hyperaldosteronism characterised by hypertension is caused by chimeric fusion of CYP11B1/CYP11B2 (monoallelic to pick this up), while biallelic variants in the CYP11B1 is associated with congenital adrenal hyperplasia which also presents with early-onset moderate to severe hypertension among other features. Therefore updating MOI to 'Both mono- and biallelic'.Created: 7 Jun 2022, 2:07 p.m. | Last Modified: 7 Jun 2022, 2:07 p.m.
Panel Version: 1.19
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. One reviewer recommends Green.Created: 7 Jun 2016, 12:48 p.m.
Comment on mode of inheritance: Biallelic for phenotype: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010Created: 7 Jun 2016, 11:29 a.m.
Phenotypes for gene: CYP11B1 were changed from Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010; Aldosteronism, glucocorticoid-remediable, 103900; Early onset hypertension with raised urinary 18-hydroxy-steroids; steroid-sensitive. to Aldosteronism, glucocorticoid-remediable, OMIM:103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010; Early onset hypertension with raised urinary 18-hydroxy-steroids, steroid-sensitive
Mode of inheritance for gene: CYP11B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag chimeric-gene tag was added to gene: CYP11B1.
Promoted 03/08/2016
Model of inheritance for gene CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for CYP11B1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010; Aldosteronism, glucocorticoid-remediable, 103900
CYP11B1 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Phenotypes for CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010; Aldosteronism, glucocorticoid-remediable ,103900
CYP11B1 was added to Extreme early-onset hypertensionpanel. Sources: Expert