Paediatric or syndromic cardiomyopathy - previous panel
Gene: SLC22A5

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 evidence for monoallelic inheritance of conditions associated with variants in SLC22A5 (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen).
Created: 1 Aug 2023, 12:41 p.m. | Last Modified: 1 Aug 2023, 12:41 p.m.

Panel Version: 0.13

Created: 1 Aug 2023, 12:41 p.m.
Last Modified: 1 Aug 2023, 12:41 p.m.
Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH

OMIM

603377

Clinvar variants

Variants in SLC22A5

Penetrance

None

Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC22A5 was added gene: SLC22A5 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Paediatric or syndromic cardiomyopathy - previous panel Gene: SLC22A5