Hyperammonaemia
Gene: AUH
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylglutaconic aciduria, type I
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 21 Nov 2016, 3:07 p.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 8 variants reported.Created: 21 Nov 2016, 3:05 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
Phenotypes for AUH were set to 3-methylglutaconic aciduria, type I 250950
Mode of inheritance for AUH was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for AUH were set to 3-methylglutaconic aciduria, type I 250950
AUH was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory