Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial trifunctional protein subunit A / LCHAD deficiency
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least seven variants reported as compoud heterozygotes and homozygotes
Created: 18 Aug 2016, 11:08 a.m.
Comment on phenotypes: Also associated with Fatty liver, acute, of pregnancy 609016, HELLP syndrome, maternal, of pregnancy 609016, LCHAD deficiency 609016
Created: 18 Aug 2016, 11 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).
HADHA was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for HADHA were set to Trifunctional protein deficiency 609015
Mode of inheritance for HADHA was changed to BIALLELIC, autosomal or pseudoautosomal
HADHA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory