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 1.18

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 interim


Version 1.23
Latest signed off version: v1.4 (4 Mar 2020)

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 2.26
Latest signed off version: v2.2 (19 Feb 2020)

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 paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    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

    Amber GANAB in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Polycystic kidney disease 3, OMIM:600666
    • Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
    Tags
    • for-review

    Green GANAB in Severe Paediatric Disorders


    Version 1.84

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