1. Panels
  2. Fatty Acid Oxidation Defects
  3. ACADM
STRs in panel
Prev Next
Regions in panel
Prev Next

Fatty Acid Oxidation Defects

Gene: ACADM

Green List (high evidence)
ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Definitive by ClinGen.
Created: 29 Jul 2020, 3:27 a.m. | Last Modified: 29 Jul 2020, 3:27 a.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450

Created: 29 Jul 2020, 3:27 a.m.
Last Modified: 29 Jul 2020, 3:27 a.m.
Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
treatable
OMIM
607008
Clinvar variants
Variants in ACADM
Penetrance
None
Panels with this gene

History Filter Activity

2 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ACADM.

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450

29 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACADM was added gene: ACADM was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACADM was set to Unknown