SLC2A2

solute carrier family 2 member 2
OMIM: 138160
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI-BICKEL SYNDROME 227810
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome, 227810, neonatal diabetes mellitus, transient neonatal diabetes mellitus (TNDM), permanent neonatal diabetes (PDNM), Fanconi Bickel Syndrome, neonatal diabetes, short stature, hepatomegaly, RTA and hypophosphatemic rickets
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome 227810
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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.