Mitochondrial disease
Gene: SLC22A5
Well established gene-disease association, curated definitive by ClinGen Fatty Acid Oxidation Disorders Gene Curation Expert Panel (PMID: 31399326).Created: 8 May 2022, 11:25 p.m. | Last Modified: 8 May 2022, 11:25 p.m.
Panel Version: 0.13930
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Publications
>3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function.
Sources: NHS GMS, LiteratureCreated: 20 Mar 2020, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary MIM#212140
Publications
Tag treatable tag was added to gene: SLC22A5.
Gene: slc22a5 has been classified as Green List (High Evidence).
Gene: slc22a5 has been classified as Green List (High Evidence).
gene: SLC22A5 was added gene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140 Review for gene: SLC22A5 was set to GREEN