SLC13A5

solute carrier family 13 member 5
OMIM: 608305, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber SLC13A5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905

Green SLC13A5 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
  • MONDO:0014392

Green SLC13A5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
    • MONDO:0014392

    Green SLC13A5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
    • MONDO:0014392

    Amber SLC13A5 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 25 615905

    Green SLC13A5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epileptic encephalopathy, early infantile, 25, 615905 (3)

    Green SLC13A5 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905

    Green SLC13A5 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
    • MONDO:0014392

    Green SLC13A5 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905

    Red SLC13A5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
    Tags
    • for review