This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: SLC2A2
SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi-Bickel syndrome, 227810
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- Complete
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Familial diabetes
- Multi-organ autoimmune diabetes
- Renal tubulopathies
- Neonatal diabetes
- Monogenic diabetes
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Glycogen storage disease
- Fetal anomalies
- DDG2P
History Filter Activity
23 May 2017, Gel status: 3
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SLC2A2 were set to Fanconi-Bickel syndrome, 227810
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC2A2 was created by ellenmcdonagh