CYP21A2

cytochrome P450 family 21 subfamily A member 2
OMIM: 613815, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CYP21A2 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 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Green CYP21A2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Tags SV/CNV
Green CYP21A2 in Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.14	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Green CYP21A2 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 21-hydroxylase deficiency
Green CYP21A2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910 Tags SV/CNV
Red CYP21A2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910)
Green CYP21A2 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 21-hydroxylase deficiency, MIM#201910 Tags treatable endocrine technically challenging
Green CYP21A2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910