Disorders of sex development

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 5 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 16 variants reported
Created: 12 Sep 2016, 8:24 a.m.
Comment on phenotypes: Also associated with Aldosteronism, glucocorticoid-remediable, 103900, not relevant to this panel.
Created: 12 Sep 2016, 8:19 a.m.
Comment on mode of inheritance: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 is biallelic (relevant to this panel).
Created: 12 Sep 2016, 8:18 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Block causes virilization in 46,XX children and can present with atypical genitalia or even hypospadias. May have trasnient initial salt loss followed by salt retention and hypertension if untreated. A relatively rare form of CAH but higher in some countries with founder effects.
Created: 4 Feb 2016, 12:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Virilizing CAH; salt retention and hypertension

Ellen McDonagh (Genomics England Curator)

Phenotypes sourced from UKGTN and OMIM. Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 10:54 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
OMIM
610613
Clinvar variants
Variants in CYP11B1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 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).

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP11B1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010

12 Sep 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CYP11B1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010; Aldosteronism, glucocorticoid-remediable, 103900

20 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 3

clearsources

Sarah Leigh (Genomics England Curator)

CYP11B1All sources for gene: CYP11B1 were removed

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Source: Other

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CYP11B1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (AR); Aldosteronism, glucocorticoid-remediable (AD)

11 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Sources: Other

11 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CYP11B1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN);Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CYP11B1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN);Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP11B1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CYP11B1 was created by ellenmcdonagh