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  3. SLC22A5
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Likely inborn error of metabolism

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 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 8 Aug 2023, 9:38 a.m.
Panel version: 4.44

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Created: 13 Jan 2017, 4:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

History Filter Activity

8 Aug 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_MOI was removed from gene: SLC22A5.

1 Aug 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC22A5 were set to 27604308; 24816252

1 Aug 2023, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_MOI tag was added to gene: SLC22A5.

1 Aug 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: SLC22A5

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC22A5. Source London North GLH was added to SLC22A5.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

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)