SLC39A14

solute carrier family 39 member 14
OMIM: 608736, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC39A14 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypermanganesemia with dystonia 2 (MIM# 617013)

    Green SLC39A14 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypermanganesemia with dystonia 2, MIM# 617013

    Green SLC39A14 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hypermanganesemia with dystonia 2, MIM# 617013

    Green SLC39A14 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green SLC39A14 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hypermanganesemia with dystonia 2 617013

    Green SLC39A14 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
    • Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive

    Green SLC39A14 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypermanganesemia with dystonia 2, MIM# 617013

    Green SLC39A14 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • hypermanganesemia with dystonia 2 MONDO:0014864
    • Disorders of magnesium metabolism

    Green SLC39A14 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive

    Amber SLC39A14 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypermanganesemia with dystonia 2, MIM# 617013
    Tags
    • for review
    • treatable
    • metabolic