Rhabdomyolysis and Metabolic Myopathy
Gene: SLC22A5EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels
3 reviews
Manny Jacobs (Victorian Clinical Genetics Services)
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
Crystle Lee (Victorian Clinical Genetics Services)
Well reported in patients with systemic primary carnitine deficiency. Severity and age of onset can be variably however usually manifests in infancy or early childhood. Skeletal and cardiac manifestations are common.Created: 15 Jun 2020, 6:21 a.m. | Last Modified: 15 Jun 2020, 6:21 a.m.
Panel Version: 0.176
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary (MIM#212140)
Publications
Bryony Thompson (Royal Melbourne Hospital)
>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, LiteratureCreated: 20 Mar 2020, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary MIM#212140
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- NHS GMS
- Royal Melbourne Hospital
- Phenotypes
-
- Carnitine deficiency, systemic primary 212140
- Tags
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
- Short QT syndrome
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc22a5 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SLC22A5 were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: SLC22A5.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC22A5 was added gene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140