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Prepair 1000+

Gene: ACAD9

Green List (high evidence)

ACAD9 (acyl-CoA dehydrogenase family member 9)
EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Predominantly presents in the newborn period with severe multi-system disease, although later presentations (e.g. in adolescence) reported.
PMID: 30025539 - 70 reported patients with ACAD9 deficiency. 62% of patients present at <1 year old (50% of these did not survive first 2 years) and 86% before 10 years old (90% of these surviving 10 years). 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.
PMID: 26475292 - MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts.

Treatment: Riboflavin improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging)
Created: 12 Jul 2024, 5:24 a.m. | Last Modified: 12 Jul 2024, 5:24 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126)

Publications

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: acad9 has been classified as Green List (High Evidence).

25 Jul 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ACAD9 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) for gene: ACAD9

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACAD9 was added gene: ACAD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)