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Genetic epilepsy syndromes

Gene: SLC5A6

No list

SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Developmental delay; epilepsy; neurodegeneration

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Developmental delay
  • epilepsy
  • neurodegeneration
OMIM
604024
Clinvar variants
Variants in SLC5A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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