Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Citrullinemia, type II,
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least seven variants reported numerous patients
Created: 18 Aug 2016, 1:08 p.m.
Comment on phenotypes: Also associated with Citrullinemia, type II, neonatal-onset 605814
Created: 18 Aug 2016, 1:04 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
Mode of inheritance for SLC25A13 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC25A13 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for SLC25A13 were set to Citrullinemia, adult-onset type II 603471
SLC25A13 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory