FAM20A

FAM20A, golgi associated secretory pathway pseudokinase
OMIM: 611062, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FAM20A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

Green FAM20A in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

Green FAM20A in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690

Green FAM20A in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690