Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported. Phenotype does not appear to be relevant to this panel
Created: 4 Nov 2016, 10:14 a.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.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; SCAD deficiency
Mode of inheritance for ACADS was changed to BIALLELIC, autosomal or pseudoautosomal
ACADS was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory