Short QT syndrome
Gene: SLC22A5
SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
SLC22A5 association with short QT syndrome is disputed by the ClinGen expert panel / PMID: 34557911. Variants in SLC22A5 cause AR primary systemic carnitine deficiency (PSCD). Short QC has been demonstrated in a carnitine-deficient mouse model as well as in patients with PSCD. However, the QT interval in these patients returns to normal with carnitine supplementation treatment, so true SQTS and SLC22A5 is disputed.
Sources: Expert ReviewCreated: 11 Oct 2021, 4:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short QT syndrome
Publications
- PMID: 34557911
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short QT syndrome
- Tags
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- None
- Publications
-
- PMID: 34557911
- 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
11 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc22a5 has been classified as Red List (Low Evidence).
11 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc22a5 has been classified as Red List (Low Evidence).
11 Oct 2021, Gel status: 0
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: SLC22A5.
11 Oct 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: SLC22A5 was added gene: SLC22A5 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to PMID: 34557911 Phenotypes for gene: SLC22A5 were set to Short QT syndrome Review for gene: SLC22A5 was set to RED