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| Monogenic Diabetes v0.107 | SLC2A2 | Zornitza Stark Marked gene: SLC2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.107 | SLC2A2 | Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.107 | SLC2A2 | Zornitza Stark Phenotypes for gene: SLC2A2 were changed from {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome to Fanconi-Bickel syndrome, MIM# 227810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.52 | SLC2A2 |
Hali Van Niel changed review comment from: 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 patient with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606); to: 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) |
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| Monogenic Diabetes v0.52 | SLC2A2 | Hali Van Niel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22060631, 23456528, 29116606, 22660720; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | SLC2A2 |
Zornitza Stark 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 |
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