1. Genes and Genomic Entities
  2. CYP11A1

CYP11A1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CYP11A1 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • drenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743
  • Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400
Tags
  • Q1_26_MOI
Green CYP11A1 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

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
  • Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400
Tags
  • Q1_26_MOI
Green CYP11A1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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
Tags
  • Q1_26_MOI