PanelApp
  1. Genes and Genomic Entities
  2. SLC31A1

SLC31A1

solute carrier family 31 member 1
OMIM: 603085, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC31A1 in Mendeliome


Version 1.3795

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

Green SLC31A1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

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

Green SLC31A1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green SLC31A1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

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

    Green SLC31A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.507

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

    Green SLC31A1 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.52

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration and seizures due to copper transport defect, MIM# 620306

    Amber SLC31A1 in Fetal anomalies


    Version 1.482

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