Rhabdomyolysis and metabolic muscle disorders

Gene: ACADM

Green List (high evidence)

ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 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 15 variants reported.
Created: 1 Dec 2016, 4:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
OMIM
607008
Clinvar variants
Variants in ACADM
Penetrance
Complete
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).

24 Nov 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACADM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

24 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ACADM was set to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ACADM were set to Rhabdomyolysis; Acyl-CoA dehydrogenase, medium chain, deficiency of 201450

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACADM was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory