VAC14

Vac14, PIKFYVE complex component
OMIM: 604632, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green VAC14 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
  • Expert Review
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054

Green VAC14 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
  • Literature
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054

Red VAC14 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)

    Red VAC14 in Neurodegenerative disorders - adult onset


    Version 2.1
    Signed off v.2.0 on 11 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Striatonigral degeneration, childhood-onset 617054

    Red VAC14 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Progressive neurological disorder and regression of developmental milestones

    Red VAC14 in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Striatonigral degeneration, childhood-onset

    Green VAC14 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.1
    Signed off v.1.0 on 12 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Striatonigral degeneration, childhood-onset 617054