Hyperammonaemia

Gene: ACAD9

Red List (low evidence)

ACAD9 (acyl-CoA dehydrogenase family member 9)
EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 15 panels

3 reviews

Sarah Leigh (Genomics England Curator)

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.

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.

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

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

Phenotypes
ACAD9 deficiency; Reye-like presentation with hyperammonaemia

History Filter Activity

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).

4 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACAD9 were set to 17564966

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126; Reye-like presentation with hyperammonaemia

4 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ACAD9 was changed to BIALLELIC, autosomal or pseudoautosomal

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ACAD9 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory