PANK2

pantothenate kinase 2
OMIM: 606157, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green PANK2 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1 (MIM#234200)

    Green PANK2 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.12

    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
    • pantothenate kinase-associated neurodegeneration MONDO:0009319

    Amber PANK2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, MIM# 234200

    Green PANK2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • HARP syndrome ( OMIM 607236)
    • Neurodegeneration with brain iron accumulation 1 (OMIM 234200)

    Green PANK2 in Incidentalome


    Version 0.314

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PANK2 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 Red
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1 MIM#234200

    Green PANK2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • HARP syndrome MIM#607236
    • Neurodegeneration with brain iron accumulation 1 MIM#234200

    Green PANK2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PANK2 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
    • Genetic Health Queensland
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, MIM#234200

    Green PANK2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • pantothenate kinase-associated neurodegeneration MONDO:0009319
    • Dystonia

    Green PANK2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • RetNet
    • Expert Review Green
    Phenotypes
    • HARP syndrome
    • Neurodegeneration with brain iron accumulation 1

    Green PANK2 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
    • Neurodegeneration with brain iron accumulation 1, 234200 (3)

    Green PANK2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1

    Green PANK2 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • GeneReviews
    • Expert Review Green
    Phenotypes
    • Pantothenate kinase-associated neurodegeneration (PKAN)

    Green PANK2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, MIM#234200

    Red PANK2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200

    Green PANK2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, MIM#234200

    Green PANK2 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • pantothenate kinase-associated neurodegeneration MONDO:0009319
    • Disorders of pantothenate and CoA metabolism