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Hereditary neuropathy or pain disorder

Gene: SLC13A3

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on list classification: As reviewed by Alexander Rossor, there is only case reported with neuropathy. Hence, this gene should be rated red with current evidence.
Created: 5 Nov 2024, 11:52 a.m. | Last Modified: 5 Nov 2024, 11:52 a.m.
Panel Version: 6.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384

Created: 5 Nov 2024, 11:51 a.m.
Last Modified: 5 Nov 2024, 11:51 a.m.
Panel version: 6.83

Alexander Rossor (UCL Institute of Neurology)

I don't know

one patient with neuropathy in literature
Sources: Expert list
Created: 19 Oct 2024, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
acute neuropathy

Publications

Created: 19 Oct 2024, 11:25 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
OMIM
606411
Clinvar variants
Variants in SLC13A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

5 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: slc13a3 has been classified as Red List (Low Evidence).

19 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: SLC13A3 was added gene: SLC13A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 37290914 Phenotypes for gene: SLC13A3 were set to acute neuropathy Penetrance for gene: SLC13A3 were set to Complete Review for gene: SLC13A3 was set to AMBER