CYP19A1

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green CYP19A1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD Tags SV/CNV
Green CYP19A1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD Tags SV/CNV
Green CYP19A1 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatase deficiency 613546
Red CYP19A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Aromatase deficiency (MIM#613546), AR Aromatase excess syndrome (MIM#139300), AD

4 panels