CYP11A1

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

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green CYP11A1 in Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Green CYP11A1 in Disorders of sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Other UKGTN Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Green CYP11A1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE Additional Gene List Expert Review Green Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Green CYP11A1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743