CYP11A1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CYP11A1 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.7
Latest signed off version: v2.2 (19 Feb 2020)

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 2.51
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 1.84

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