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  3. SLC2A2
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Monogenic Diabetes

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 10 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Rare presenting feature for recessive Fanconi-Bickel syndrome.
From 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)
Three further patients with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606)
Created: 30 Apr 2024, 12:25 a.m. | Last Modified: 30 Apr 2024, 12:25 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neonatal diabetes mellitus MONDO:0016391

Publications

Created: 30 Apr 2024, 12:25 a.m.
Last Modified: 30 Apr 2024, 12:25 a.m.
Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
OMIM
138160
Clinvar variants
Variants in SLC2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a2 has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC2A2 were changed from {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome to Fanconi-Bickel syndrome, MIM# 227810

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A2 was added gene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720 Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome