Rhabdomyolysis and metabolic muscle disorders
Gene: SLC22A5EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels
1 review
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, 2:15 p.m. | Last Modified: 8 Aug 2023, 9:41 a.m.
Panel Version: 3.7
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 20 variants reported.Created: 5 Dec 2016, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Literature
- UKGTN
- Phenotypes
-
- Carnitine deficiency, systemic primary, OMIM:212140
- systemic primary carnitine deficiency disease, MONDO:0008919
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Short QT syndrome
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- 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 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
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_MOI tag was added to gene: SLC22A5.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC22A5 were set to 25929793
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SLC22A5 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SLC22A5 were set to Carnitine deficiency, systemic primary 212140
Added New Source
Sarah Leigh (Genomics England Curator)SLC22A5 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)SLC22A5 was created by sleigh