FBXO7

F-box protein 7
OMIM: 605648, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green FBXO7 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
  • Early Onset Complex Disease
  • parkinsonian-pyramidal syndrome
Green FBXO7 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
  • juvenile parkinsonism
Green FBXO7 in Adult onset hereditary spastic paraplegia


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 15, autosomal recessive, OMIM:260300
Green FBXO7 in Adult onset neurodegenerative disorder


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

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
  • Parkinson disease 15, autosomal recessive, OMIM:260300
Red FBXO7 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkinson disease 15, autosomal recessive 260300
    Green FBXO7 in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Parkinson disease 15, autosomal recessive, OMIM:260300
    Green FBXO7 in Childhood onset dystonia, chorea or related movement disorder


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Parkinson disease 15, autosomal recessive, 260300
    • juvenile parkinsonism
    • Dystonia
    Green FBXO7 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 15, autosomal recessive, 260300