Hyperammonaemia
Gene: SLC22A5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary
Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).Created: 1 Aug 2023, 2:14 p.m. | Last Modified: 8 Aug 2023, 9:37 a.m.
Panel Version: 1.20
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 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.
Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were changed from Propionicacidemia 606054 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Publications for gene: SLC22A5 were set to
Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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