SERPINA6

serpin family A member 6
OMIM: 122500, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green SERPINA6 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corticosteroid-binding globulin deficiency, MIM#611489
  • Corticosteroid-binding globulin deficiency, MONDO#0012675