Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: SLC25A4EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 15 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 103220
- Clinvar variants
- Variants in SLC25A4
- Penetrance
- None
- Panels with this gene
-
- Sudden death in young people
- Mitochondrial disorders
- Congenital myopathy
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
- Arthrogryposis
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A4 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)SLC25A4 was created by Sarah Leigh