Diabetes with additional phenotypes suggestive of a monogenic aetiology

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 13 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: As suggested by reviewer.
Created: 7 Jun 2016, 9:54 a.m.
Comment on list classification: Promoted to green due to expert review, and current diagnostic. Much evidence for association with Fanconi-Bickel syndrome.
Created: 7 Jun 2016, 9:53 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome, 227810
  • Fanconi-Bickel syndrome
OMIM
138160
Clinvar variants
Variants in SLC2A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A2 were set to 23456528; 22660720; 22831748

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen