Hyperammonaemia

Gene: ACADS

Red List (low evidence)

ACADS (acyl-CoA dehydrogenase short chain)
EnsemblGeneIds (GRCh38): ENSG00000122971
EnsemblGeneIds (GRCh37): ENSG00000122971
OMIM: 606885, Gene2Phenotype
ACADS is in 11 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SCAD deficiency

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. Phenotype does not appear to be relevant to this panel
Created: 4 Nov 2016, 10:14 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
  • SCAD deficiency
OMIM
606885
Clinvar variants
Variants in ACADS
Penetrance
Complete
Panels with this gene

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 Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; SCAD deficiency

4 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ACADS was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory