Hyperammonaemia
Gene: ACADM
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCAD deficiency
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous homozygous variants reportedCreated: 17 Aug 2016, 2:20 p.m.
Comment on phenotypes: Mildly elevated blood ammonia reported for this phenotypeCreated: 17 Aug 2016, 2:19 p.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
ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
This gene has been classified as Green List (High Evidence).
Phenotypes for ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Mode of inheritance for ACADM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ACADM was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory