Likely inborn error of metabolism - targeted testing not possible
Gene: ACADM
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Confirmed link to metabolic disease but likely to be considered already in first line metabolic testing and therefore not sure appropriate for this panelCreated: 3 Jan 2017, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source: Expert Review Red was removed from gene: ACADM
Source NHS GMS was added to ACADM. Source London North GLH was added to ACADM.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ACADM was added gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27604308; 24816252 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)