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  3. SLC13A3
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Early onset or syndromic epilepsy

Gene: SLC13A3

Green List (high evidence)
SLC13A3 (solute carrier family 13 member 3)
EnsemblGeneIds (GRCh38): ENSG00000158296
EnsemblGeneIds (GRCh37): ENSG00000158296
OMIM: 606411, Gene2Phenotype
SLC13A3 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:59 p.m. | Last Modified: 24 Feb 2025, 5:59 p.m.
Panel Version: 7.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:59 p.m.
Last Modified: 24 Feb 2025, 5:59 p.m.
Panel version: 7.39

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 618384). At least 9 unrelated cases with biallelic variants in this gene and acute reversible leukoencephalopathy with increased urinary α-ketoglutarate, arising in the context of a febrile illness (PMID: 30635937; 34966709; 35527102; 37290914; 38235040).

Sufficient evidence to promote SLC13A3 to Green at the next GMS panel update.
Created: 13 Nov 2024, 3:20 p.m. | Last Modified: 13 Nov 2024, 3:20 p.m.
Panel Version: 7.9
Created: 13 Nov 2024, 3:20 p.m.
Last Modified: 13 Nov 2024, 3:20 p.m.
Panel version: 7.9

Cassandra Smith (Genomics England)

Green List (high evidence)

Febrile seizures reported in >3 families with biallelic variants in SLC13A3
Sources: Literature
Created: 4 Nov 2024, 12:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 4 Nov 2024, 12:09 p.m.

Panel version: 7.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
OMIM
606411
Clinvar variants
Variants in SLC13A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: SLC13A3.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to SLC13A3. Source Expert Review Green was added to SLC13A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Nov 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: SLC13A3.

13 Nov 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937

13 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc13a3 has been classified as Amber List (Moderate Evidence).

13 Nov 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC13A3 were changed from to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384

4 Nov 2024, Gel status: 0

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

Cassandra Smith (Genomics England)

gene: SLC13A3 was added gene: SLC13A3 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937 Review for gene: SLC13A3 was set to GREEN