Diagnostic testing for 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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

ACADM has been added to the panel for R451 Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 29 May 2024, 12:10 p.m. | Last Modified: 29 May 2024, 12:10 p.m.

Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 May 2024, 12:10 p.m.
Last Modified: 29 May 2024, 12:10 p.m.
Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450

OMIM

607008

Clinvar variants

Variants in ACADM

Penetrance

None

Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: acadm has been classified as Green List (High Evidence).

24 May 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ACADM was added gene: ACADM was added to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing. Sources: NHS GMS Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 Review for gene: ACADM was set to RED

Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing Gene: ACADM