Extreme early-onset hypertension

Gene: CYP11B1

Green List (high evidence)

CYP11B1 (cytochrome P450 family 11 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000160882
EnsemblGeneIds (GRCh37): ENSG00000160882
OMIM: 610613, Gene2Phenotype
CYP11B1 is in 6 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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 202010
Created: 7 Jun 2016, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • 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.
OMIM
610613
Clinvar variants
Variants in CYP11B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

20 Jun 2016, Gel status: 4

Set Mode of Inheritance

Fiona Karet (Universit y of Cambridge)

Model of inheritance for gene CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP11B1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010; Aldosteronism, glucocorticoid-remediable, 103900

6 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010; Aldosteronism, glucocorticoid-remediable ,103900

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CYP11B1 was added to Extreme early-onset hypertensionpanel. Sources: Expert