Hyperammonaemia
Gene: ACAD9
ACAD9 (acyl-CoA dehydrogenase family member 9)
EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported, but only one case with hyperammonaemia.Created: 4 Nov 2016, 9:48 a.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
Reye-like illness with hyperammonaemia in one patient;one mutation only identified. Not a feature in majority of patientsCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACAD9 deficiency; Reye-like presentation with hyperammonaemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
- Reye-like presentation with hyperammonaemia
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Mitochondrial liver disease, including transient infantile liver failure
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
4 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
4 Nov 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for ACAD9 were set to 17564966
4 Nov 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126; Reye-like presentation with hyperammonaemia
4 Nov 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ACAD9 was changed to BIALLELIC, autosomal or pseudoautosomal
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ACAD9 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory