Likely inborn error of metabolism - targeted testing not possible
Gene: SLC22A5
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, 2:28 p.m. | Last Modified: 8 Aug 2023, 9:38 a.m.
Panel Version: 4.44
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Tag Q3_23_MOI was removed from gene: SLC22A5.
Publications for gene: SLC22A5 were set to 27604308; 24816252
Tag Q3_23_MOI tag was added to gene: SLC22A5.
Phenotypes for gene: SLC22A5 were changed from Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Source: Expert Review Red was removed from gene: SLC22A5
Source NHS GMS was added to SLC22A5. Source London North GLH was added to SLC22A5.
Ellen McDonagh: Comment on mode of pathogenici
gene: SLC22A5 was added gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 27604308; 24816252 Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)