PANK2

pantothenate kinase 2
OMIM: 606157, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PANK2 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Exper
  • Expert list
Phenotypes
  • Early Onset Complex Disease
  • Dystonia
  • pantothenate kinase-associated neurodegeneration
  • Dystonia
  • Neurodegeneration with brain iron accumulation 1
  • 234200

Green PANK2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • pantothenate kinase-associated neurodegeneration

Green PANK2 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review

Green PANK2 in Neurodegenerative disorders - adult onset


Version 2.1
Signed off v.2.0 on 11 Dec 2019

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Dystonia
  • Neurodegeneration with brain iron accumulation 1
  • 234200
  • Early Onset Complex Disease
  • pantothenate kinase-associated neurodegeneration

Green PANK2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

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

Green PANK2 in Inborn errors of metabolism


Version 2.4
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • HARP syndrome 607236
    • Neurodegeneration with brain iron accumulation 234200

    Red PANK2 in Possible mitochondrial disorder - nuclear genes


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • HARP syndrome, 607236
    • Neurodegeneration with brain iron accumulation 1, 234200

    Red PANK2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, 234200
    • HARP syndrome, 607236

    Red PANK2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236

    Green PANK2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.8
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • HARP syndrome
    • Neurodegeneration with brain iron accumulation 1

    Green PANK2 in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • pantothenate kinase-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 1
    • Early Onset Complex Disease
    • Dystonia
    • 234200

    Green PANK2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.3
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • pantothenate kinase-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 1, 234200

    Green PANK2 in Severe Paediatric Disorders


    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, 234200
    • HARP syndrome, 607236