Calcium and Phosphate disorders
Gene: SLC2A2EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hypophosphataemic rickets can be a feature of the condition.
PMID: 35738466 - 4 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction
Sources: LiteratureCreated: 1 Apr 2024, 12:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glycogen storage disease due to GLUT2 deficiency MONDO:0009216
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- glycogen storage disease due to GLUT2 deficiency MONDO:0009216
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc2a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc2a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC2A2 was added gene: SLC2A2 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 35738466 Phenotypes for gene: SLC2A2 were set to glycogen storage disease due to GLUT2 deficiency MONDO:0009216 Review for gene: SLC2A2 was set to GREEN gene: SLC2A2 was marked as current diagnostic