Rhabdomyolysis and metabolic muscle 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 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported and supporting in vitro evidence available.
Created: 1 Dec 2016, 4:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency due to ACAD9 deficiency 611126

Publications

Details

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

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

1 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACAD9 was created by sleigh

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ACAD9 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN