Acute rhabdomyolysis
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
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
- Sudden death in young people
- Intellectual disability
- 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
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ACADM was added gene: ACADM was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27856190; 11409868 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450