Multi-organ autoimmune diabetes
Gene: SLC19A2
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:10 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Phenotypes
-
- Neonatal Diabetes
- Tags
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Neonatal diabetes
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Unexplained kidney failure in young people
- Familial diabetes
- Multi-organ autoimmune diabetes
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Pyruvate dehydrogenase (PDH) deficiency
- Proteinuric renal disease
- Rare anaemia
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SLC19A2.
25 Jul 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN