CYP11A1

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

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 1.6	1 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 1.2302	1 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 0.540	1 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	0 reviews	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	0 reviews	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 1.313	1 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 1.1566	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)
Green CYP11A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)