Genes in panel

Likely inborn error of metabolism - targeted testing not possible


Green List (high evidence)

ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 16 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rhabdomyolysis and metabolic muscle disorders

Saikat Santra (Birmingham Children's Hospital)

I don't know

Confirmed link to metabolic disease but likely to be considered already in first line metabolic testing and therefore not sure appropriate for this panel
Created: 3 Jan 2017, 11:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: ACADM

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACADM. Source London North GLH was added to ACADM.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)