Cerebral Palsy
Gene: ACADMEnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional individual with a complex neurodevelopmental disorder including cerebral palsy and fatty liver with elevated ALT reported with compound heterozygous LP variants in ACADM (PMID: 38843839). Neurological sequelae including CP are a frequent outcome of untreated ACADMD.Created: 24 Jul 2024, 1:48 a.m. | Last Modified: 24 Jul 2024, 1:48 a.m.
Panel Version: 1.356
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- PMID: 38843839
Luisa Weiss (University of Adelaide)
Currently unclear if variants in this gene can cause CP. If so, CP is likely to happen as a secondary effect of the brain damage happening if Acyl-CoA dehydrogenase deficiency is not treated correctly or early enough.
According to one study, CP can be present in 9% of cases with biallelic mutations in ACADM, probably secondary to the underlying disease and associated with early-onset seizures (PMID 11263545).
In a second publication one other case of CP associated with biallelic mutations in ACADM was presented, but this patient's phenotype was likely caused by biallelic mutations in PDHX which were present simultaneously.
Sources: LiteratureCreated: 22 May 2023, 2:41 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
- Phenotypes
-
- Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACADM were set to 11263545; 35076175
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadm has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadm has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadm has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ACADM was added gene: ACADM was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 11263545; 35076175 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Review for gene: ACADM was set to AMBER