Cerebral Palsy
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
1 review
Clare van Eyk (University of Adelaide)
1 individual with biallelic splice variants reported in large-scale exome sequencing study (PMID: 38693247). No functional assessement reported. No detailed clinical information provided.
Sources: LiteratureCreated: 28 May 2024, 4 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acad9 has been classified as Red List (Low Evidence).
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acad9 has been classified as Red List (Low Evidence).
28 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ACAD9 was added gene: ACAD9 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID: 38693247 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 Review for gene: ACAD9 was set to RED