SLC37A4

solute carrier family 37 member 4
OMIM: 602671
PanelMode of inheritanceDetails
3 panels
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ic 232240, Glycogen storage disease Ib 232220
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 Ic, 232240, Glycogen storage disease Ib, 232220, Glycogen Storage Disease Type I, Glycogen Storage Disorders- Liver, Glycogen Storage Disease, Glycogen Storage Disease Ib and Ic, Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders), heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib, Glycogen storage disease type 1b (GS1b), Glycogen storage disease with or without neutropenia, Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly, Congenital defects of phagocyte number or function