Sudden death in young people
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
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Green on hyperammonaemia panel so will be included with metabolic panel.Created: 19 Dec 2016, 3:57 p.m.
Rebecca Foulger (Genomics England curator)
MCADD (Medium chain acyl-CoA dehydrogenase deficiency) is believed to account for up to 2.5% of sudden infant death cases (source=Emory).Created: 29 Nov 2016, 10 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- Medium chain acyl-CoA dehydrogenase deficiency
- MCADD
- MCAD deficiency-associated sudden death
- sudden infant death syndrome
- SIDS
- Tags
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- Complete
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ACADM.
19 Dec 2016, Gel status: 0
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
19 Dec 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been removed from the panel.
29 Nov 2016, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)ACADM was added to Sudden death in young peoplepanel. Source: Literature
29 Nov 2016, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)ACADM was added to Sudden death in young peoplepanel. Sources: Emory Genetics Laboratory
29 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ACADM was created by rfoulger