Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported, but only one case with hyperammonaemia.
Created: 4 Nov 2016, 9:48 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.
Reye-like illness with hyperammonaemia in one patient;one mutation only identified. Not a feature in majority of patients
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ACAD9 deficiency; Reye-like presentation with hyperammonaemia
Promoted to version 1 on 22nd November 2016
This gene has been classified as Red List (Low Evidence).
Publications for ACAD9 were set to 17564966
Phenotypes for ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126; Reye-like presentation with hyperammonaemia
Mode of inheritance for ACAD9 was changed to BIALLELIC, autosomal or pseudoautosomal
ACAD9 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory