Hyperammonaemia
Gene: HMGCS2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase deficiency
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported in four patients. This phenotype may not be relevant to this panel as it does not appear to include hyperammonaemiaCreated: 18 Aug 2016, 1:38 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
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for HMGCS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
HMGCS2 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for HMGCS2 were set to HMG-CoA synthase-2 deficiency 605911
HMGCS2 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory