Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: SLC25A19EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 15 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606521
- Clinvar variants
- Variants in SLC25A19
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Fetal anomalies
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Severe microcephaly
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Pyruvate dehydrogenase (PDH) deficiency
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A19 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)SLC25A19 was created by Sarah Leigh