Acute rhabdomyolysis
Gene: SLC22A5EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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, 2:57 p.m. | Last Modified: 8 Aug 2023, 9:41 a.m.
Panel Version: 1.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Short QT syndrome
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_MOI was removed from gene: SLC22A5.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC22A5 were set to 29895548
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_MOI tag was added to gene: SLC22A5.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: SLC22A5 was added gene: SLC22A5 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 29895548 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, OMIM:212140