1. Panels
  2. DEMO Diabetes neonatal onset
  3. SLC2A2
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DEMO Diabetes neonatal onset

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

Rebecca Foulger (Genomics England curator)

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.
Created: 25 Apr 2017, 2:29 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.94

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.
Created: 7 Jun 2016, 9:53 a.m.

Panel version: Imported from Familial diabetes panel version 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Eligibility statement prior genetic testing
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 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
OMIM
138160
Clinvar variants
Variants in SLC2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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