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This Panel is marked as Retired
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
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
Achchuthan Shanmugasundram (Genomics England Curator)
ACADM has been added to the panel for R403 MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:28 p.m. | Last Modified: 30 Jun 2023, 2:28 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- None
- 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
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ACADM was added gene: ACADM was added to MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal