PanelApp (staging)
  1. Genes and Genomic Entities
  2. SLC2A2

SLC2A2

solute carrier family 2 member 2
OMIM: 138160, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red SLC2A2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810

Green SLC2A2 in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.2

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi-Bickel syndrome (MIM#227810)

    Green SLC2A2 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810

    Green SLC2A2 in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.24

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • glycogen storage disease due to GLUT2 deficiency MONDO:0009216

    Amber SLC2A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810

    Green SLC2A2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.136

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810

    Green SLC2A2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi-Bickel syndrome, 227810 (3)

    Red SLC2A2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810

    Green SLC2A2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810

    Green SLC2A2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810