SLC13A5

solute carrier family 13 member 5
OMIM: 608305, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SLC13A5 in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905

    Red SLC13A5 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905

    Green SLC13A5 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.14
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kohlschütter-Tönz syndrome(KTZS)
    • hypoplastic amelogenesis imperfecta
    • Epileptic encephalopathy, early infantile, 25 615905

    Green SLC13A5 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE

    Green SLC13A5 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE

    Green SLC13A5 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Epileptic encephalopathy, early infantile, 25

    Green SLC13A5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE

    No list SLC13A5 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Plasma membrane citrate transporter deficiency
    • Epileptic encephalopathy
    • Delayed psychomotor development.

    Green SLC13A5 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 25, 615905