Hyperammonaemia
Gene: ETFA
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric aciduria type II ETFA deficiency
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported, two in homozygous and compound heterozygous cases and three as compound heterozygotes (at least 8 unrelated cases).Created: 22 Nov 2016, 9:22 a.m.
Comment on list classification: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 21 Nov 2016, 3:17 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.
Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Promoted to version 1 on 22nd November 2016
Mode of inheritance for ETFA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ETFA were set to Glutaric acidemia IIA 231680
ETFA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory