Differences in sex development
Gene: CYP11B1EnsemblGeneIds (GRCh38): ENSG00000160882
EnsemblGeneIds (GRCh37): ENSG00000160882
OMIM: 610613, Gene2Phenotype
CYP11B1 is in 3 panels
4 reviews
Ivone Leong (Genomics England Curator)
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 reportedCreated: 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)
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
-
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
- OMIM
- 610613
- Clinvar variants
- Variants in CYP11B1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYP11B1 were changed from Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010; Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
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 Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CYP11B1 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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
clearsources
Sarah Leigh (Genomics England Curator)CYP11B1All sources for gene: CYP11B1 were removed
Added New Source
Sarah Leigh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Source: Other
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)
Upload gene information
Ellen McDonagh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Sources: Other
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
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
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
Created
Ellen McDonagh (Genomics England Curator)CYP11B1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CYP11B1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing