Mitochondrial disorders Victorian Clinical Genetics Services
Gene: ACAD9EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Mitochondrial liver disease, including transient infantile liver failure
- Fetal anomalies
- Mitochondrial disorder with complex I deficiency
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)ACAD9 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)ACAD9 was created by Sarah Leigh