CYP11B1

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CYP11B1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Tags treatable
Green CYP11B1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010 Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags treatable
Green CYP11B1 in Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags treatable
Green CYP11B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Green CYP11B1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Green CYP11B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 Tags treatable endocrine
Green CYP11B1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Green Expert Review Phenotypes Aldosteronism, glucocorticoid-remediable, MIM# 103900