Familial 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 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

History Filter Activity

15 Jun 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).

7 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A2 were set to PMID: 23456528; 22660720; 22831748

7 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A2 were set to PMID: 23456528; 22660720

7 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A2 were set to PMID: 23456528

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

7 Jun 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).

7 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC2A2 was added to Familial diabetespanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC2A2 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen