SLC2A2

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SLC2A2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

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 2.0

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 2.0

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

Amber SLC2A2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 1.0

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 1.0

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 2.0

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 3.0

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 2.0

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