GANAB

glucosidase II alpha subunit
OMIM: 104160, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green GANAB in Ductal plate malformation


Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 3 (600666)
Green GANAB in Polycystic liver disease


Version 1.31
Latest signed off version: v1.26 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 3, OMIM:600666
Green GANAB in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Mild cystic kidney and liver disease
    • Polycyctic kidney disease 3
    Green GANAB in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mild cystic kidney and liver disease
    • Polycyctic kidney disease 3
    Green GANAB in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 3, OMIM:600666
    • Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
    Green GANAB in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 3, 600666