Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported as homozygotes in three families and compound heterozygotes in three patients
Created: 18 Aug 2016, 11:21 a.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 Green List (High Evidence).
HMGCL was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for HMGCL was changed to BIALLELIC, autosomal or pseudoautosomal
HMGCL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory