Mitochondrial disorders
Gene: SLC19A3
SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 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 mode of inheritance: Confirmed on OMIM and G2P.Created: 12 Feb 2016, 12:27 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green. It is a confirmed DD gene for Thiamine metabolism dysfunction syndrome 2.Created: 12 Feb 2016, 12:26 p.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 metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Thiamine metabolism dysfunction syndrome 2
- Proteinuric renal disease
- Undiagnosed metabolic disorders
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SLC19A3. Panel: Mitochondrial disorders
12 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC19A3 was changed to BIALLELIC, autosomal or pseudoautosomal
12 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen