Cardiac arrhythmias - previous panel
Gene: SLC22A5EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- cardiomyopathy
- Carnitine deficiency, systemic primary 212140
- primary carnitine deficiency
- short QT
- arrhythmia
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Acute rhabdomyolysis
- DDG2P
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hyperammonaemia
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Short QT syndrome
- Gastrointestinal epithelial barrier disorders
- Arthrogryposis
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against the component panels, and ready to be promoted to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SLC22A5 was added gene: SLC22A5 was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC22A5 were set to 29198778; 7254270; 26190315; 7131143 Phenotypes for gene: SLC22A5 were set to cardiomyopathy; Carnitine deficiency, systemic primary 212140; primary carnitine deficiency; short QT; arrhythmia