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 1.120

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 1.147

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 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Green PANK2 in Adult onset neurodegenerative disorder


Version 4.46
Latest signed off version: v4.34 (31 Jul 2023)

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, OMIM:234200
Green PANK2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • HARP syndrome 607236
  • Neurodegeneration with brain iron accumulation 234200
Green PANK2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • HARP syndrome 607236
    • Neurodegeneration with brain iron accumulation 234200
    Amber PANK2 in Possible mitochondrial disorder - nuclear genes


    Version 3.89
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • HARP syndrome, 607236
    • Neurodegeneration with brain iron accumulation 1, 234200
    Tags
    • Q3_23_promote_green
    Red PANK2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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
    Amber PANK2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • HARP syndrome, OMIM:607236
    • Neurodegeneration with brain iron accumulation 1, OMIM:234200
    Tags
    • Q3_23_promote_green
    Green PANK2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    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 dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Neurodegeneration with brain iron accumulation 1, OMIM:234200
    Green PANK2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.182

    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