Mitochondrial liver disease, including transient infantile liver failure
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
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ACAD9; Suggested intial gene rating: Red. Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, 611126
Ellen McDonagh (Genomics England Curator)
Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype.Created: 25 Feb 2019, 4:23 p.m.
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 10:50 a.m.
Comment on list classification: Promoted from red to green due to expert review suggestion. It is also a confirmed DD gene for ACAD9 deficiency.Created: 10 Feb 2016, 10:50 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 20, 611126
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- None
- 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
25 Feb 2019, Gel status: 1
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: acad9 has been classified as Red List (Low Evidence).
1 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ACAD9 was added gene: ACAD9 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126