Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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.
Publications for ACADL were set to doi: 10.1038/ng.507; PMC3773904
Promoted to version 1 on 22nd November 2016
This gene has been classified as Red List (Low Evidence).
ACADL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory