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  3. ACAD9
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Mitochondrial disorders

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

2 reviews

Ellen McDonagh (Genomics England Curator)

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.
Created: 10 Feb 2016, 10:50 a.m.

Panel version: 0.123

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • ACAD9 deficiency, 611126
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
OMIM
611103
Clinvar variants
Variants in ACAD9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ACAD9. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACAD9 were set to PMID:17564966; 21057504

10 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ACAD9 were set to Isolated complex I deficiency; ACAD9 deficiency, 611126; Mitochondrial complex I deficiency due to ACAD9 deficiency

10 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ACAD9 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAD9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAD9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAD9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen