Glycogen storage disease

Gene: SLC2A2

Green List (high evidence)

SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 15 panels

1 review

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi-Bickel syndrome 227810

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC2A2 was added gene: SLC2A2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome 227810