Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carnitine deficiency, systemic primary
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 12:54 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
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC22A5 were set to Propionicacidemia 606054
Mode of inheritance for SLC22A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC22A5 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SLC22A5 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory