Rhabdomyolysis and Metabolic Myopathy
Gene: ACAD9EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 30025539 - 70 reported patients with ACAD9 deficiency. 62% of patients present at <1 year old and 86% before 10 years old. The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers.Created: 7 Nov 2020, 4:28 a.m. | Last Modified: 7 Nov 2020, 4:28 a.m.
Panel Version: 0.5335
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Publications
Bryony Thompson (Royal Melbourne Hospital)
Rhabdomyolysis can be a prominent feature of the condition.
Sources: Expert listCreated: 12 Feb 2020, 2:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
- Tags
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebral Palsy
- Fatty Acid Oxidation Defects
- Stroke
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ACAD9.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acad9 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACAD9 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACAD9 was added gene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126