Research panel - Severe Paediatric Disorders
Gene: SLC22A5

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)

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, 2:55 p.m. | Last Modified: 8 Aug 2023, 9:40 a.m.

Panel Version: 1.167

Created: 1 Aug 2023, 2:55 p.m.
Last Modified: 8 Aug 2023, 9:40 a.m.
Panel version: 1.164

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC22A5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Carnitine deficiency, systemic primary, 212140 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Carnitine deficiency, systemic primary, OMIM:212140
systemic primary carnitine deficiency disease, MONDO:0008919

OMIM

603377

Clinvar variants

Variants in SLC22A5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

1 Aug 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC22A5 were set to 30847515

1 Aug 2023, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Aug 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919

20 Feb 2020, Gel status: 3