Structural basal ganglia disorders
Gene: SLC19A3EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels
4 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
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
-
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- 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
-
- Intellectual disability
- 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
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Structural basal ganglia disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Structural basal ganglia disorderspanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)SLC19A3 was created by sleigh