Hyperammonaemia
Gene: ETFB
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric aciduria type II ETFB deficiency
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported, two in a homozygous children and the others as compound heterozygotes in two brothers.Created: 21 Nov 2016, 3:37 p.m.
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 21 Nov 2016, 3:34 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.
Publications for gene: ETFB were set to 27081516
Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ETFB were set to Glutaric acidemia IIB 231680
Publications for ETFB were set to 27081516
Phenotypes for ETFB were set to Glutaric acidemia IIB 231680
Mode of inheritance for ETFB was changed to BIALLELIC, autosomal or pseudoautosomal
ETFB was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory