DEMO Diabetes neonatal onset
Gene: SLC2A2
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: SLC2A2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets.Created: 11 Jan 2019, 4:27 p.m.
Comment when marking as ready: Marked as Ready: April 25th 2017.Created: 25 Apr 2017, 2:31 p.m.
Comment on list classification: Updated rating from Red to Green: 1 green review plus >3 unrelated cases of SLC2A2 mutations causing neonatal diabetes. Plus part of Exeter neonatal diabetes screen.Created: 25 Apr 2017, 2:31 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:22660720 and PMID:12029458).Created: 25 Apr 2017, 2:29 p.m.
There are 6 confirmed cases of neonatal diabetes due to homozygous SLC2A2 mutations- 5 reported in PMID:22660720 and 1 reported in PMID:12029458 (Yoo et al). In PMID:22660720 (Sansbury et al., 2012), 4 patients had transient neonatal diabetes (TNDM) and 1 patient had permanent neonatal diabetes (PDNM- previously reported in Habeb et al.,2012/PMID:22060631). Note that in PMID:22660720, patient 2 has a sister homozygous for the same mutation who was not diagnosed with diabetes.Created: 25 Apr 2017, 2:29 p.m.
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.
gene: SLC2A2 was added gene: SLC2A2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 22060631; 12029458; 22660720 Phenotypes for gene: SLC2A2 were set to hepatomegaly, RTA and hypophosphatemic rickets; Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); short stature; Fanconi Bickel Syndrome; permanent neonatal diabetes (PDNM); neonatal diabetes