ALG5:Ensemblv90

ALG5, dolichyl-phosphate beta-glucosyltransferase
OMIM: 604565, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ALG5 in Mendeliome


Version 1.3802

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 7, MIM# 620056

Green ALG5 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 0.100

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polycystic kidney disease 7, MIM# 620056
    • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline

    Green ALG5 in Polycystic liver disease


    Level 2: Gastroenterological disorders
    Version 1.8

    Component of the following Super Panels:

  • Liverome Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polycystic kidney disease 7, MIM# 620056
    • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline

    Green ALG5 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Polycystic kidney disease 7, MIM# 620056
    • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline

    Green ALG5 in Polycystic liver disease


    Level 2: Gastroenterological disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Polycystic kidney disease 7, MIM# 620056
    • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline