Mitochondrial disorders
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 11:45 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Cytopenias and congenital anaemias
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Proteinuric renal disease
- Rare anaemia
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Familial diabetes
- Multi-organ autoimmune diabetes
- Possible mitochondrial disorder - nuclear genes
- Pyruvate dehydrogenase (PDH) deficiency
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SLC19A2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC19A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen