Hyperammonaemia
Gene: SLC25A15Please 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.
Repetition in phenotype. Why -3 after 238970?Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome; Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 -3
Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
SLC25A15 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
SLC25A15 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen
SLC25A15 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services