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  2. Hyperammonaemia
  3. ACADM
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Hyperammonaemia

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: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 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 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACADM was added gene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,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