Genetic epilepsy syndromesGene: SLC5A6
Watchlist tag was added to take account of the potential therapeutic options of this cause of seizures.
Created: 8 Jul 2020, 9:40 a.m. | Last Modified: 8 Jul 2020, 9:40 a.m.
Panel Version: 2.113
Comment on list classification: Not associated with phenotype in OMIM and as possible Gen2Phen gene for SLC5A6-related Neurodevelopmental Disorder. At least 4 variants published in two unrelated famililies (3 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies. One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459).
Created: 2 Jun 2020, 5:31 p.m. | Last Modified: 2 Jun 2020, 5:31 p.m.
Panel Version: 2.85
Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Expert list
Created: 25 Jan 2020, 6:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Developmental delay; epilepsy; neurodegeneration
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist tag was added to gene: SLC5A6.
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to SLC5A6-related Neurodevelopmental Disorder
Gene: slc5a6 has been classified as Amber List (Moderate Evidence).
gene: SLC5A6 was added gene: SLC5A6 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 31754459; 27904971 Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration Review for gene: SLC5A6 was set to GREEN gene: SLC5A6 was marked as current diagnostic