Genetic Epilepsy
Gene: SLC12A5

SLC12A5 (solute carrier family 12 member 5)
EnsemblGeneIds (GRCh38): ENSG00000124140
EnsemblGeneIds (GRCh37): ENSG00000124140
OMIM: 606726, Gene2Phenotype
SLC12A5 is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Classified as LIMITED by ClinGen Epilepsy GCEP for AD association - https://search.clinicalgenome.org/CCID:006147
Created: 22 Apr 2024, 3:52 a.m. | Last Modified: 22 Apr 2024, 3:52 a.m.

Panel Version: 0.2599

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental and epileptic encephalopathy MONDO:0100062

Publications

https://search.clinicalgenome.org/CCID:006147

Created: 22 Apr 2024, 3:52 a.m.
Last Modified: 22 Apr 2024, 3:52 a.m.
Panel version: 0.2599

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association for biallelic pathogenic variants with epilepsy of infancy with migrating focal seizures.

Heteozygous, monoallelic variants (specifically p.Arg952His and p.Arg1049Cys) described in the literature as having an association with isolated febrile seizures/generalised epilepsy.
Created: 4 May 2022, 7:20 a.m. | Last Modified: 4 May 2022, 7:20 a.m.

Panel Version: 0.13713

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685

Publications

Created: 4 May 2022, 7:20 a.m.
Last Modified: 4 May 2022, 7:20 a.m.
Panel version: Imported from Mendeliome panel version 0.13713

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Developmental and epileptic encephalopathy 34, MIM# 616645
{Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685

OMIM

606726

Clinvar variants

Variants in SLC12A5

Penetrance

None

Publications

Panels with this gene