1. Panels
  2. Newborns main panel
  3. SLC13A5
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: SLC13A5

Amber List (moderate evidence)
SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27600704 - 5 families PMID: 26384929 - 4 families PMID: 24995870 - 3 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Early infantile epileptic encephalopathy-25
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC13A5. Added phenotypes Early infantile epileptic encephalopathy-25 for gene: SLC13A5 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC13A5. Added phenotypes Early infantile epileptic encephalopathy-25 for gene: SLC13A5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC13A5. Added phenotypes Early infantile epileptic encephalopathy-25 for gene: SLC13A5 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SLC13A5 was added gene: SLC13A5 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC13A5 were set to Early infantile epileptic encephalopathy-25