CYP11A1

cytochrome P450 family 11 subfamily A member 1
OMIM: 118485, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CYP11A1 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 insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Green CYP11A1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Red CYP11A1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Green CYP11A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Green CYP11A1 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 insufficiency, congenital, with 46XY sex reversal, partial or complete
Green CYP11A1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Green CYP11A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Green CYP11A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743 Tags treatable endocrine
Green CYP11A1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)