Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: SLC22A5

Green List (high evidence)

SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels

2 reviews

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>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, Literature
Created: 20 Mar 2020, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine deficiency, systemic primary MIM#212140

Publications

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SLC22A5.

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc22a5 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc22a5 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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