Extreme early-onset hypertension

Gene: CYP11B2

Green List (high evidence)

CYP11B2 (cytochrome P450 family 11 subfamily B member 2)
EnsemblGeneIds (GRCh38): ENSG00000179142
EnsemblGeneIds (GRCh37): ENSG00000179142
OMIM: 124080, Gene2Phenotype
CYP11B2 is in 4 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Additional chimeric gene in which the 5-prime regulatory sequences of the CYP11B1 gene is fused to the coding region of the CYP11B2 gene
Created: 20 Jun 2016, 6:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glucucorticoid-remediable hyperaldosteronsim

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 1/4 sources. One expert reviewer recommends Green.
Created: 3 Aug 2016, 12:57 p.m.
Comment on phenotypes: Biallelic variants reported in Hypoaldosteronism, congenital, due to CMO I deficiency 203400 & Hypoaldosteronism, congenital, due to CMO II deficiency 610600
Created: 3 Aug 2016, 12:32 p.m.
Comment on mode of pathogenicity: Gene fusion between 5' of CYP11B1 gene is fused to the coding region of the CYP11B2 gene results in increased expression
Created: 3 Aug 2016, 12:27 p.m.
Comment on mode of inheritance: For Glucocorticoid-remediable aldosteronism
Created: 3 Aug 2016, 12:23 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim
Tags
chimeric-gene
OMIM
124080
Clinvar variants
Variants in CYP11B2
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

7 Jun 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag chimeric-gene tag was added to gene: CYP11B2.

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 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).

3 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CYP11B2 were set to 1731223; 26309573; 23150505

3 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP11B2 were set to Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim

3 Aug 2016, Gel status: 1

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for CYP11B2 was changed to Other - please provide details in the comments

3 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP11B2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CYP11B2 were set to 1731223; 26309573

3 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CYP11B2 were set to 1731223

7 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP11B2 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO II deficiency, 610600

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CYP11B2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen