1. Genes and Genomic Entities
  2. SLC13A3

SLC13A3

solute carrier family 13 member 3
OMIM: 606411, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SLC13A3 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
    Green SLC13A3 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
    Green SLC13A3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
    Green SLC13A3 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
    Red SLC13A3 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.32
    Latest signed off version: v8.30 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384