VRK1

vaccinia related kinase 1
OMIM: 602168, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green VRK1 in Ataxia and cerebellar anomalies - narrow panel


Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, OMIM:607596
    Green VRK1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert List
    Phenotypes
    • Pontocerebellar hypoplasia 1A (#607596)
    Green VRK1 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.8
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, OMIM:607596
    Green VRK1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    • Literature
    Phenotypes
    • Pontocerebellar Hypoplasia type 1A
    • Pontocerebellar Hypoplasia with infantile SMA
    • Pontocerebellar Hypoplasia with anterior horn cell disease
    • Pontocerebellar Hypoplasia
    • Pontocerebellar hypoplasia type 1A,607596
    Green VRK1 in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, OMIM:607596
    • spinal muscular atrophy, MONDO:0001516
    • distal hereditary motor neuropathy, MONDO:0018894
    • familial amyotrophic lateral sclerosis, MONDO:0005144
    Green VRK1 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 1
    Green VRK1 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.7
    Latest signed off version: v3.6 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, OMIM:607596
    Green VRK1 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
    Green VRK1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • Expert list
    Phenotypes
    • Distal hereditary motor neuropathy
    Green VRK1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.24
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, 607596
    • PONTOCEREBELLAR HYPOPLASIA TYPE 1
    Amber VRK1 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia 1A, 607596
    Green VRK1 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • London North GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Distal hereditary motor neuropathy
    Red VRK1 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green VRK1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia type 1A, 607596