ACAD9

acyl-CoA dehydrogenase family member 9
OMIM: 611103, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red ACAD9 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM#611126

Green ACAD9 in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
  • treatable

Green ACAD9 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Tags
  • treatable

Green ACAD9 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Tags
  • treatable

Green ACAD9 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Tags
  • treatable

Green ACAD9 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews 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
  • treatable

Green ACAD9 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)

Green ACAD9 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
  • treatable

Green ACAD9 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, 611126
Tags
  • treatable

Green ACAD9 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • ACAD9 deficiency

Green ACAD9 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126

Green ACAD9 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)

Green ACAD9 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Tags
  • treatable
  • metabolic

Green ACAD9 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126)