Renal tubulopathies
Gene: SLC2A2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version, will be examined at next panel review.Created: 16 Oct 2020, 11:03 a.m. | Last Modified: 16 Oct 2020, 11:03 a.m.
Panel Version: 2.22
Comment on list classification: SLC2A2 (GLUT2) associated with Fanconi-Bickel syndrome which includes renal tubular dysfunction. Sufficient number of unrelated individuals reported to classify as Green. Identified in PMID: 32150856 as missing from the panel in 27/02/2020.Created: 23 Mar 2020, 12:32 p.m. | Last Modified: 23 Mar 2020, 12:32 p.m.
Panel Version: 2.7
Well established renal tubulopathy gene.
Sources: Expert listCreated: 23 Jan 2020, 3:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome, MIM# 227810
Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, MIM# 227810 to Fanconi-Bickel syndrome, OMIM:227810
Tag for-review was removed from gene: SLC2A2.
Source Expert Review Green was added to SLC2A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc2a2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SLC2A2.
Gene: slc2a2 has been classified as Green List (High Evidence).
Publications for gene: SLC2A2 were set to 32150856; 24175243
Publications for gene: SLC2A2 were set to
gene: SLC2A2 was added gene: SLC2A2 was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810 Review for gene: SLC2A2 was set to GREEN