PanelApp (test)
  1. Genes and Genomic Entities
  2. FAM20A:Ensemblv90

FAM20A:Ensemblv90

FAM20A, golgi associated secretory pathway pseudokinase
OMIM: 611062, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FAM20A in Mendeliome


Version 1.3802

1 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 1.29

1 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 1.12

1 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 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 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

    Green FAM20A in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 2.0

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

    Green FAM20A in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    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 2.0

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