CYP19A1

cytochrome P450 family 19 subfamily A member 1
OMIM: 107910, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CYP19A1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aromatase deficiency, OMIM:613546
Green CYP19A1 in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aromatase deficiency, OMIM:613546
Red CYP19A1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Aromatase deficiency, OMIM:613546
  • Aromatase excess syndrome, OMIM:139300