CYP19A1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CYP19A1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 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 1.3499	1 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 0.362	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatase deficiency 613546
Red CYP19A1 in Fetal anomalies Version 1.465	1 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
Green CYP19A1 in Infertility and Recurrent Pregnancy Loss Version 1.48	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aromatase deficiency, MIM# 613546

5 panels