This Panel is marked as Deleted
Microcephaly Victorian Clinical Genetics Services
Gene: SLC25A19
SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 15 panels
0 reviews
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
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Undiagnosed metabolic disorders
- Intellectual disability
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A19 was added to Microcephaly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)SLC25A19 was created by Sarah Leigh