Extreme early-onset hypertension
Gene: CYP11B1EnsemblGeneIds (GRCh38): ENSG00000160882
EnsemblGeneIds (GRCh37): ENSG00000160882
OMIM: 610613, Gene2Phenotype
CYP11B1 is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Fiona Karet (Universit y of Cambridge)
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 202010Created: 7 Jun 2016, 11:29 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- 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
- Tags
- OMIM
- 610613
- Clinvar variants
- Variants in CYP11B1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CYP11B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag chimeric-gene tag was added to gene: CYP11B1.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted 03/08/2016
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
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CYP11B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
Added New Source
Eik Haraldsdottir (Genomics England)CYP11B1 was added to Extreme early-onset hypertensionpanel. Sources: Expert