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Molecular autopsy

Gene: SLC22A5

Green List (high evidence)
SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: The mode of inheritance is being changed from Monoallelic to Biallelic, as there is no published evidence for monoallelic inheritance of conditions associated with variants in SLC22A5 (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen).
Created: 1 Aug 2023, 12:44 p.m. | Last Modified: 1 Aug 2023, 12:44 p.m.
Panel Version: 0.111
Created: 1 Aug 2023, 12:44 p.m.
Last Modified: 1 Aug 2023, 12:44 p.m.
Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • primary carnitine deficiency
  • Carnitine deficiency, systemic primary 212140
  • cardiomyopathy
  • arrhythmia
  • Propionicacidemia
  • Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
  • short QT
OMIM
603377
Clinvar variants
Variants in SLC22A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes arrhythmia; cardiomyopathy; short QT; Carnitine deficiency, systemic primary 212140; primary carnitine deficiency for gene: SLC22A5 Publications for gene SLC22A5 were changed from 27604308; 24816252 to 7254270; 29198778; 26190315; 7131143

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Propionicacidemia for gene: SLC22A5

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC22A5 was added gene: SLC22A5 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 27604308; 24816252 Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)