SLC31A1

solute carrier family 31 member 1
OMIM: 603085, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SLC31A1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

Amber SLC31A1 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 Amber
    • Expert list
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

    Amber SLC31A1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

    Red SLC31A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

    Amber SLC31A1 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.47

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

    Amber SLC31A1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306