Disorders of sex development
Gene: CYP11B1
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.
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.
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
Phenotypes sourced from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:54 a.m.
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)
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for CYP11B1 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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
CYP11B1All sources for gene: CYP11B1 were removed
CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
CYP11B1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
CYP11B1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
CYP11B1 was added to Disorders of sex developmentpanel. Source: Other
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)
CYP11B1 was added to Disorders of sex developmentpanel. Sources: Other
Model of inheritance for gene CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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
CYP11B1 was created by ellenmcdonagh
CYP11B1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing