Hyperammonaemia

Gene: ACADM

Green List (high evidence)

ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MCAD deficiency

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous homozygous variants reported
Created: 17 Aug 2016, 2:20 p.m.
Comment on phenotypes: Mildly elevated blood ammonia reported for this phenotype
Created: 17 Aug 2016, 2:19 p.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

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

18 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN

17 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450

17 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

17 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory