This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
- Microcephaly, Amish type 607196
- OMIM
- 606521
- Clinvar variants
- Variants in SLC25A19
- Penetrance
- None
- Publications
- 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
- Adult onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC25A19 was added gene: SLC25A19 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 12185364; 17035501; 19798730 Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710; Microcephaly, Amish type 607196