1. Genes and Genomic Entities
  2. GANAB

GANAB

glucosidase II alpha subunit
OMIM: 104160, Gene2Phenotype

4 panels

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


Version 1.31

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


Level 2: Gastrohepatology
Version 1.32
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 2: Renal
Version 8.5
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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