Epileptic encephalopathy
Gene: SLC12A5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Both applies to information from reviewers, G2P and OMIM, and publications.Created: 29 Jan 2016, 5:10 p.m.
PMID: 25839329 - Two families, each with two children with EIMFS with similar presentation, were investigated. Missense mutations within the SLC12A5 gene were reported in all four children, with a recessive mode of inheritance. The children from Family A were compound heterozygotes for missense mutations c.1277T>C (L426P) and c.1652G>A (G551D). The affected patients from Family B were homozygous for the missense variant c.932T>A (L311H). Parents were heterozygous carriers. No potential pathogenic variants were found in known EIMFS or EIEE genes in the families. Postulated mechanism from in vitro/in vivo studies is through reduced surface expression, impairing normal synaptic inhibition and promoting neuronal excitability.
PMID: 24668262 - 378 patients with seizure disorders were analyzed and 11 rare variants in SLC12A% were identified. In one family, rs142740233 NM_020708.4:c.2855G>A missense variant (causing Arg>His at position 952 in KCC2b and 975 in KCC2a) was found. The KCC2b isoform of the variant (named KCC2-R952H) was investigated further and was shown to result in reduced cell surface expression.Created: 21 Jan 2016, 1:51 p.m.
Comment on phenotypes: From PMID: 26333769Created: 21 Jan 2016, 1:12 p.m.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC12A5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for SLC12A5 were set to PMID: 26333769; 24668262
Phenotypes for SLC12A5 were set to epilepsy of infancy with migrating focal seizures (EIMFS)
Publications for SLC12A5 were set to PMID:26333769
The Gel status was updated for this whole panel
SLC12A5 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
SLC12A5 was added to Epileptic encephalopathypanel. Sources: Expert Review
SLC12A5 was created by Reviewer_03