Mitochondrial disease
Gene: ACADMEnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Bryony Thompson (Royal Melbourne Hospital)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 6:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
- Tags
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Cerebral Palsy
- Fatty Acid Oxidation Defects
History Filter Activity
Removed Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag acadm was removed from gene: ACADM. Tag treatable tag was added to gene: ACADM.
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag acadm tag was added to gene: ACADM.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acadm has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acadm has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACADM was added gene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 25778941; 1972503; 26223887 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Review for gene: ACADM was set to GREEN