Hyperammonaemia
Gene: ACADL
ACADL (acyl-CoA dehydrogenase long chain)
EnsemblGeneIds (GRCh38): ENSG00000115361
EnsemblGeneIds (GRCh37): ENSG00000115361
OMIM: 609576, Gene2Phenotype
ACADL is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000115361
EnsemblGeneIds (GRCh37): ENSG00000115361
OMIM: 609576, Gene2Phenotype
ACADL is in 1 panel
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACADL deficiency
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. One variant of unknown significance reported rs2286963. This variant has been patented for use in diagnosing the risk of
thermo-labile phenotype in influenza-associated encephalopathy. MAF G=0.3011/36439 (ExAC), G=0.2111/1057 (1000 Genomes), G=0.2766/3597 (GO-ESP)Created: 24 Jan 2017, 3:19 p.m.
Publications
- doi: 10.1038/ng.507
- 3773904
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
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- OMIM
- 609576
- Clinvar variants
- Variants in ACADL
- Penetrance
- Complete
- Publications
-
- doi: 10.1038/ng.507
- PMC3773904
- Panels with this gene
History Filter Activity
24 Jan 2017, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for ACADL were set to doi: 10.1038/ng.507; PMC3773904
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
4 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ACADL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory