CYP11B1

cytochrome P450 family 11 subfamily B member 1
OMIM: 610613, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green CYP11B1 in Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.23	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources UKGTN Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services 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 chimeric-gene
Green CYP11B1 in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010 Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
Green CYP11B1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS PAGE Additional Gene List Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010