Rhabdomyolysis and metabolic muscle disorders
Gene: ACADM
ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
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
-
- Arthrogryposis
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
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