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  2. Rhabdomyolysis and Metabolic Myopathy
  3. ACADM
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Rhabdomyolysis and Metabolic Myopathy

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 19 Dec 2021, 11:27 p.m. | Last Modified: 19 Dec 2021, 11:27 p.m.
Panel Version: 0.10301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 19 Dec 2021, 11:27 p.m.
Last Modified: 19 Dec 2021, 11:27 p.m.
Panel version: Imported from Mendeliome panel version 0.10301

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency. >3 cases reported.
Created: 13 Apr 2020, 7:30 a.m. | Last Modified: 13 Apr 2020, 7:31 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Feb 2020, 2:12 a.m.
Last Modified: 13 Apr 2020, 7:31 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
  • Rhabdomyolysis
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.

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acadm has been classified as Red List (Low Evidence).

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acadm has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACADM was added gene: ACADM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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 201450; Rhabdomyolysis