PanelApp
  1. Genes and Genomic Entities
  2. SLC13A3

SLC13A3

solute carrier family 13 member 3
OMIM: 606411, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SLC13A3 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)

Green SLC13A3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)

    Green SLC13A3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)

    Green SLC13A3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)