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Thiamine metabolism dysfunction syndrome 2
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #607483) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 1:42 p.m. | Last Modified: 29 Dec 2025, 1:42 p.m.
Panel Version: 1.2
SLC19A3 has been added to the panel for R395 Thiamine metabolism dysfunction syndrome 2 with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 4:56 p.m. | Last Modified: 30 Jun 2023, 4:56 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type), OMIM:607483
- biotin-responsive basal ganglia disease, MONDO:0011841
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type), OMIM:607483; biotin-responsive basal ganglia disease, MONDO:0011841
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SLC19A3 was added gene: SLC19A3 was added to Thiamine metabolism dysfunction syndrome 2. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal