Hyperammonaemia
Gene: ACADMEnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCAD deficiency
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous homozygous variants reportedCreated: 17 Aug 2016, 2:20 p.m.
Comment on phenotypes: Mildly elevated blood ammonia reported for this phenotypeCreated: 17 Aug 2016, 2:19 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- Complete
- Panels with this gene
-
- Arthrogryposis
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Upload gene information
Sarah Leigh (Genomics England Curator)ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ACADM was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory