Genomics England
GMS Panels
Panels
Genes and Entities

SLC2A2

solute carrier family 2 member 2
OMIM: 138160
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI-BICKEL SYNDROME 227810
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome 227810
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease type XI (Glycogen storage disorders), Glycogen Storage Disorders- Liver, Glucose transporter 2 deficiency (Disorders of glucose transport), Fanconi-Bickel Syndrome, renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome, OMIM:227810, neonatal diabetes mellitus, MONDO:0016391, transient neonatal diabetes mellitus (disease), MONDO:0020525, permanent neonatal diabetes mellitus, MONDO:0100164
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome, OMIM:227810